FASTKD2 p.Ala321=
c.963A>G · rs2468813398 · VCV2651846
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.43 | GERP 1.9, phastCons 0.82 |
| Overall | ||
| CADD | 7.442 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- FASTKD2
- Protein
- p.Ala321=
- Coding
- c.963A>G
- MANE Select
- NM_001136193
- dbSNP
- rs2468813398
- Type
- single nucleotide variant
- Location
- chr2:206771263 (GRCh38)
- Gene constraint
- LOEUF 1.203 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.39
- Residue 321
- a UniProt-annotated variant site (in coxpd44; decreased mitochondrial large ribosomal subunit assembly); a UniProt-annotated variant site (in coxpd44)
Similar variants
- FASTKD2 c.882-1G>A Pathogenic/Likely pathogenic ★★ same type
- FASTKD2 c.991-2A>G Likely pathogenic ★★ same type
- FASTKD2 p.Arg290Ter Pathogenic ★★ same type
- FASTKD2 p.Arg358Ter Pathogenic/Likely pathogenic ★★ same type
- FASTKD2 p.Arg432Ter Pathogenic/Likely pathogenic ★★ same type
- FASTKD2 p.Cys283Ter Pathogenic/Likely pathogenic ★★ same type
- FASTKD2 p.Gln564Ter Pathogenic/Likely pathogenic ★★ same type
- FASTKD2 p.Trp302Ter Pathogenic/Likely 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/fastkd2-p-ala321 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown