A3G (p.Ala3Gly) variant of BLM (RecQ-like DNA helicase BLM)
A3G (p.Ala3Gly) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- ExAC rs200399224
- gnomAD rs200399224
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00023)
- Structural context available