M69R (p.Met69Arg) variant of ATXN3 (Ataxin-3)
M69R (p.Met69Arg) in ATXN3 (Ataxin-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
M69R (p.Met69Arg) variant details
- p.Met69Arg
- gnomAD rs2065170762
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available