A113V (p.Ala113Val) variant of MCM6 (Q14566)
A113V (p.Ala113Val) in MCM6 (Q14566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A113V (p.Ala113Val) variant details
- p.Ala113Val
- rs772169779
- ClinGen CA1889303
- ClinVar RCV004115406
- ExAC rs772169779
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.42
- CADD 28.20
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available