A4V (p.Ala4Val) variant of MCM6 (Q14566)
A4V (p.Ala4Val) 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 0.22 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- rs1680298558
- ClinGen CA348604483
- ClinVar RCV004419244
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.04
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available