S35L (p.Ser35Leu) variant of GBA1 (P04062)
S35L (p.Ser35Leu) 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; Lewy body dementia; Gaucher disease type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S35L (p.Ser35Leu) variant details
- p.Ser35Leu
- rs757041827
- ClinGen CA1141859
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- Uncertain significance
- not specified; Lewy body dementia; Gaucher disease type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.33
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (not specified; Lewy body dementia; Gaucher disease type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)