V52A (p.Val52Ala) variant of BLM (RecQ-like DNA helicase BLM)
V52A (p.Val52Ala) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- gnomAD 15-90749423-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.08
- CADD 16.10
- PolyPhen-2 0.10
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available