V59V (p.Val59Val) variant of BLM (RecQ-like DNA helicase BLM)
V59V (p.Val59Val) in BLM (RecQ-like DNA helicase BLM) is a synonymous 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.
V59V (p.Val59Val) variant details
- p.Val59Val
- gnomAD 15-90749445-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 6.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available