G17V (p.Gly17Val) variant of MCM5 (P33992)
G17V (p.Gly17Val) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- gnomAD rs1290401825
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.17
- MetaLR 0.06
- MetaSVM -1.08
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available