G3V (p.Gly3Val) variant of MCM5 (P33992)
G3V (p.Gly3Val) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G3V (p.Gly3Val) variant details
- p.Gly3Val
- ExAC rs775476754
- gnomAD rs775476754
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.50
- MetaLR 0.38
- MetaSVM -0.10
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available