G178R (p.Gly178Arg) variant of ATP1A3 (P13637)
G178R (p.Gly178Arg) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G178R (p.Gly178Arg) variant details
- p.Gly178Arg
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- NCI-TCGA Cosmic COSV5748
- TOPMed rs2075282646
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available