A19S (p.Ala19Ser) variant of MCM5 (P33992)
A19S (p.Ala19Ser) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- gnomAD 22-35400493-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0611
- REVEL 0.01
- CADD 6.83
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available