M180I (p.Met180Ile) variant of ATXN3 (Ataxin-3)
M180I (p.Met180Ile) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
M180I (p.Met180Ile) variant details
- p.Met180Ile
- gnomAD rs1284571302
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the African/African-American population (allele frequency 2.4e-05)