A128V (p.Ala128Val) variant of GBA1 (P04062)
A128V (p.Ala128Val) in GBA1 (P04062) is a missense change. Clinical records from ClinVar 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 0.69 / 1. The record also includes population frequency data and structural context.
A128V (p.Ala128Val) variant details
- p.Ala128Val
- ExAC rs763972468
- gnomAD rs763972468
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.72
- CADD 24.20
- PolyPhen-2 0.34
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available