A3S (p.Ala3Ser) variant of BLM (RecQ-like DNA helicase BLM)
A3S (p.Ala3Ser) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 15-90747399-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.07
- CADD 21.90
- PolyPhen-2 0.14
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available