A134V (p.Ala134Val) variant of GBA1 (P04062)
A134V (p.Ala134Val) 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 0.54 / 1. The record also includes population frequency data and structural context.
A134V (p.Ala134Val) variant details
- p.Ala134Val
- rs1403560814
- ClinGen CA342725977
- ClinVar RCV001200368
- gnomAD rs1403560814
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.53
- CADD 23.30
- PolyPhen-2 0.32
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available