S35W (p.Ser35Trp) variant of GBA1 (P04062)
S35W (p.Ser35Trp) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S35W (p.Ser35Trp) variant details
- p.Ser35Trp
- rs757041827
- ClinVar RCV004586315
- ClinVar RCV005933644
- ClinVar RCV005933645
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.43
- CADD 23.70
- PolyPhen-2 0.65
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)