H52R (p.His52Arg) variant of ATP1A1 (P05023)
H52R (p.His52Arg) in ATP1A1 (P05023) 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 0.33 / 1. The record also includes population frequency data and structural context.
H52R (p.His52Arg) variant details
- p.His52Arg
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99814
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.26
- MetaLR 0.07
- MetaSVM -1.04
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00059)
- Structural context available