S48F (p.Ser48Phe) variant of BLM (RecQ-like DNA helicase BLM)
S48F (p.Ser48Phe) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S48F (p.Ser48Phe) variant details
- p.Ser48Phe
- NCI-TCGA Cosmic COSV6192
- cosmic curated COSV61927
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 0.67
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available