V49L (p.Val49Leu) variant of BLM (RecQ-like DNA helicase BLM)
V49L (p.Val49Leu) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data and structural context.
V49L (p.Val49Leu) variant details
- p.Val49Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0318
- REVEL 0.01
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available