V67V (p.Val67Val) variant of BLM (RecQ-like DNA helicase BLM)
V67V (p.Val67Val) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V67V (p.Val67Val) variant details
- p.Val67Val
- rs563887813
- gnomAD 15-90749469-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0896
- CADD 1.27
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available