S33P (p.Ser33Pro) variant of BLM (RecQ-like DNA helicase BLM)
S33P (p.Ser33Pro) 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 and structural context.
S33P (p.Ser33Pro) variant details
- p.Ser33Pro
- gnomAD rs1286825856
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.16
- CADD 22.20
- PolyPhen-2 0.20
- SIFT 0.21
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available