M48T (p.Met48Thr) variant of ATXN3 (Ataxin-3)
M48T (p.Met48Thr) in ATXN3 (Ataxin-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
M48T (p.Met48Thr) variant details
- p.Met48Thr
- ExAC rs774250246
- gnomAD rs774250246
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 26.10
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available