P67R (p.Pro67Arg) variant of ATP1A3 (P13637)
P67R (p.Pro67Arg) 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 0.76 / 1. The record also includes population frequency data and structural context.
P67R (p.Pro67Arg) variant details
- p.Pro67Arg
- NCI-TCGA Cosmic COSV5749
- TOPMed rs2075303051
- gnomAD rs2075303051
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available