V49N (p.Val49Asn) variant of BLM (RecQ-like DNA helicase BLM)
V49N (p.Val49Asn) in BLM (RecQ-like DNA helicase BLM) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V49N (p.Val49Asn) variant details
- p.Val49Asn
- gnomAD 15-90749411-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available