S26G (p.Ser26Gly) variant of BLM (RecQ-like DNA helicase BLM)
S26G (p.Ser26Gly) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S26G (p.Ser26Gly) variant details
- p.Ser26Gly
- gnomAD 15-90747468-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.16
- CADD 18.20
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available