R78W (p.Arg78Trp) variant of ATP13A2 (Q9NQ11)
R78W (p.Arg78Trp) in ATP13A2 (Q9NQ11) 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 0.29 / 1. The record also includes population frequency data and structural context.
R78W (p.Arg78Trp) variant details
- p.Arg78Trp
- rs1443334892
- NCI-TCGA Cosmic COSV5870
- cosmic curated COSV58701
- TOPMed rs1443334892
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.12
- CADD 24.60
- PolyPhen-2 0.77
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available