P42S (p.Pro42Ser) variant of GBA1 (P04062)
P42S (p.Pro42Ser) 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 0.73 / 1. The record also includes population frequency data and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- rs779377390
- ClinGen CA1141835
- ClinVar RCV004113832
- ExAC rs779377390
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.71
- CADD 23.70
- PolyPhen-2 0.72
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available