M46I (p.Met46Ile) variant of ATXN3 (Ataxin-3)
M46I (p.Met46Ile) in ATXN3 (Ataxin-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
M46I (p.Met46Ile) variant details
- p.Met46Ile
- NCI-TCGA Cosmic COSV1005
- NCI-TCGA Cosmic COSV6149
- cosmic curated COSV61494
- cosmic curated COSV10051
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available