A30V (p.Ala30Val) variant of MRE11 (P49959)
A30V (p.Ala30Val) in MRE11 (P49959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- Ensembl rs2135141215
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.46
- AlphaMissense 0.17
- MetaLR 0.46
- MetaSVM -0.05
- CADD 23.00
- PolyPhen-2 0.75
- Population evidence available
- Structural context available