A30S (p.Ala30Ser) variant of ATXN1 (Ataxin-1)
A30S (p.Ala30Ser) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- cosmic curated COSV55211
- TOPMed rs1760895329
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.04
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -1.00
- CADD 14.80
- PolyPhen-2 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available