R217C (p.Arg217Cys) variant of ATP1A3 (P13637)
R217C (p.Arg217Cys) in ATP1A3 (P13637) 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 0.79 / 1. The record also includes population frequency data and structural context.
R217C (p.Arg217Cys) variant details
- p.Arg217Cys
- rs782713179
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57488
- ExAC rs782713179
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available