G52V (p.Gly52Val) variant of ATXN1 (Ataxin-1)
G52V (p.Gly52Val) in ATXN1 (Ataxin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G52V (p.Gly52Val) variant details
- p.Gly52Val
- gnomAD rs1321973842
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.03
- CADD 16.80
- PolyPhen-2 0.06
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available