S26I (p.Ser26Ile) variant of BLM (RecQ-like DNA helicase BLM)
S26I (p.Ser26Ile) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S26I (p.Ser26Ile) variant details
- p.Ser26Ile
- gnomAD 15-90747469-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.17
- CADD 21.70
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available