P14S (p.Pro14Ser) variant of GBA1 (P04062)
P14S (p.Pro14Ser) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- rs371238435
- ClinGen CA1141870
- ClinVar RCV003130996
- ESP rs371238435
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.24
- CADD 0.84
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available