A105V (p.Ala105Val) variant of ATXN1 (Ataxin-1)
A105V (p.Ala105Val) in ATXN1 (Ataxin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A105V (p.Ala105Val) variant details
- p.Ala105Val
- cosmic curated COSV55229
- ExAC rs781297445
- TOPMed rs781297445
- gnomAD rs781297445
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.12
- AlphaMissense 0.19
- MetaLR 0.12
- MetaSVM -0.87
- CADD 10.20
- PolyPhen-2 0.16
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available