S28P (p.Ser28Pro) variant of BLM (RecQ-like DNA helicase BLM)
S28P (p.Ser28Pro) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S28P (p.Ser28Pro) variant details
- p.Ser28Pro
- gnomAD 15-90747474-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.15
- CADD 20.70
- PolyPhen-2 0.37
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available