L27P (p.Leu27Pro) variant of BLM (RecQ-like DNA helicase BLM)
L27P (p.Leu27Pro) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 15-90747472-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.04
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available