F127C (p.Phe127Cys) variant of ATXN1 (Ataxin-1)
F127C (p.Phe127Cys) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F127C (p.Phe127Cys) variant details
- p.Phe127Cys
- ExAC rs776775767
- gnomAD rs776775767
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.34
- CADD 24.50
- PolyPhen-2 0.41
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available