S17L (p.Ser17Leu) variant of BLM (RecQ-like DNA helicase BLM)
S17L (p.Ser17Leu) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bloom syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
S17L (p.Ser17Leu) variant details
- p.Ser17Leu
- rs2151145042
- ClinGen CA393838908
- ClinVar RCV001364605
- Ensembl rs2151145042
- Uncertain significance
- Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.20
- MetaLR 0.43
- MetaSVM -0.13
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.22
- ClinVar: Uncertain significance (Bloom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)