M69L (p.Met69Leu) variant of ATXN3 (Ataxin-3)
M69L (p.Met69Leu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
M69L (p.Met69Leu) variant details
- p.Met69Leu
- TOPMed rs2065171407
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 24.10
- PolyPhen-2 0.29
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available