R15L (p.Arg15Leu) variant of BLM (RecQ-like DNA helicase BLM)
R15L (p.Arg15Leu) 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, published literature, and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- gnomAD 15-90747436-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.10
- CADD 19.00
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available