S30L (p.Ser30Leu) variant of ATXN2 (Ataxin-2)
S30L (p.Ser30Leu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
S30L (p.Ser30Leu) variant details
- p.Ser30Leu
- cosmic curated COSV10822
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 21.60
- Population evidence available