S111L (p.Ser111Leu) variant of ATXN3 (Ataxin-3)
S111L (p.Ser111Leu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
S111L (p.Ser111Leu) variant details
- p.Ser111Leu
- cosmic curated COSV10464
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available