Is CDK8 p.Ser277= (c.831A>G) pathogenic?

CDK8 p.Ser277= (c.831A>G) is classified Likely benign in CDK8 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-11-01). Absent from gnomAD v4.1.

How common is CDK8 p.Ser277= (c.831A>G) in the general population?

CDK8 p.Ser277= (c.831A>G) is absent from gnomAD v4.1 (gnomAD).

CDK8 p.Ser277=

c.831A>G · rs2542444259 · VCV2643704

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,461,432)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 6.1	GERP -1.3, phastCons 1
Overall
CADD	13.35	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,461,432). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: CDK8
Protein: p.Ser277=
Coding: c.831A>G
MANE Select: NM_001260
dbSNP: rs2542444259
Type: single nucleotide variant
Location: chr13:26396325 (GRCh38)
Gene constraint: LOEUF 0.646 · pLI 0.47 (gnomAD)
Structure: AlphaFold pLDDT 80.75 · 36 PDB
Residue 277: the protein kinase domain; an α-helix

Full CDK8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CDK8 p.Ser62Leu Pathogenic ★★ same type
CDK8 p.Asn433Lys Uncertain significance ★★ ⚠ same type
CDK8 p.Met445Ile Uncertain significance ★★ ⚠ same type
CDK8 p.Pro388Gln Uncertain significance ★★ ⚠ same type
CDK8 c.934-28G>A Benign ★★ same type
CDK8 p.Ala188Gly Likely pathogenic ★ same type
CDK8 p.Arg178Gln Pathogenic ★ same type
CDK8 p.Asn156Ser Pathogenic ★ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cdk8-p-ser277 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown