V59I (p.Val59Ile) variant of BLM (RecQ-like DNA helicase BLM)
V59I (p.Val59Ile) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V59I (p.Val59Ile) variant details
- p.Val59Ile
- Ensembl rs2151146790
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.08
- CADD 15.60
- PolyPhen-2 0.08
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available