V117A (p.Val117Ala) variant of GBA1 (P04062)
V117A (p.Val117Ala) 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; not provided. 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.
V117A (p.Val117Ala) variant details
- p.Val117Ala
- rs1671973382
- ClinGen CA342726360
- ClinVar RCV003120305
- ClinVar RCV003331453
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.81
- CADD 24.40
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available