S42Y (p.Ser42Tyr) variant of BLM (RecQ-like DNA helicase BLM)
S42Y (p.Ser42Tyr) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S42Y (p.Ser42Tyr) variant details
- p.Ser42Tyr
- cosmic curated COSV61927
- ExAC rs763065919
- gnomAD rs763065919
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.10
- CADD 22.00
- PolyPhen-2 0.47
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available