L9P (p.Leu9Pro) variant of BLM (RecQ-like DNA helicase BLM)
L9P (p.Leu9Pro) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- gnomAD rs1189105027
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.67
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available