V40A (p.Val40Ala) variant of ATXN1 (Ataxin-1)
V40A (p.Val40Ala) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V40A (p.Val40Ala) variant details
- p.Val40Ala
- gnomAD rs1168923062
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.03
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available