V31M (p.Val31Met) variant of ATXN3 (Ataxin-3)
V31M (p.Val31Met) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
V31M (p.Val31Met) variant details
- p.Val31Met
- ExAC rs766001707
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)