M180K (p.Met180Lys) variant of ATXN3 (Ataxin-3)
M180K (p.Met180Lys) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
M180K (p.Met180Lys) variant details
- p.Met180Lys
- ExAC rs751874751
- TOPMed rs751874751
- gnomAD rs751874751
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 0.00012)