A2V (p.Ala2Val) variant of BLM (RecQ-like DNA helicase BLM)
A2V (p.Ala2Val) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 15-90747397-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.18
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available