V72A (p.Val72Ala) variant of MCM5 (P33992)
V72A (p.Val72Ala) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V72A (p.Val72Ala) variant details
- p.Val72Ala
- ExAC rs763729545
- gnomAD rs763729545
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.63
- MetaLR 0.49
- MetaSVM -0.07
- CADD 28.20
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available