P12S (p.Pro12Ser) variant of GBA1 (P04062)
P12S (p.Pro12Ser) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gaucher disease perinatal lethal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- rs763770350
- ClinGen CA1141873
- ClinVar RCV001196632
- ExAC rs763770350
- Uncertain significance
- Gaucher disease perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.17
- CADD 5.56
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Gaucher disease perinatal lethal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Gaucher Disease. (PMID 20301446)