CENPV p.Ala186Pro
c.556G>C · rs2543808375 · VCV2478671
Uncertain significance
Single submitter
Classification
Uncertain significance
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. | ||
| REVEL | 0.136 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 1.7, phastCons 1 |
| Regional constraint | o/e 0.68 | unconstrained · MANE · 10 kb · p 1.4e-06 · regional, not allelic |
| Overall | ||
| CADD | 25.4 | 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
- CENPV
- Protein
- p.Ala186Pro
- Coding
- c.556G>C
- MANE Select
- NM_181716
- dbSNP
- rs2543808375
- Type
- single nucleotide variant
- Location
- chr17:16348639 (GRCh38)
- Gene constraint
- LOEUF 0.953 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 80.30
- Residue 186
- the cenp-v/gfa domain
Similar variants
- CENPV p.Pro87Ser Benign ★★ same type
- CENPV p.Ala25Glu Uncertain significance ★ same type
- CENPV p.Ala25Gly Uncertain significance ★ same type
- CENPV p.Ala28Ser Uncertain significance ★ same type
- CENPV p.Ala28Val Uncertain significance ★ same type
- CENPV p.Ala29Gly Uncertain significance ★ same type
- CENPV p.Ala31Val Uncertain significance ★ same type
- CENPV p.Ala84Thr Uncertain significance ★ 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/cenpv-p-ala186pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown