P140L (p.Pro140Leu) variant of ATXN3 (Ataxin-3)
P140L (p.Pro140Leu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data.
P140L (p.Pro140Leu) variant details
- p.Pro140Leu
- cosmic curated COSV61497
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)