P83R (p.Pro83Arg) variant of ATP1A1 (P05023)
P83R (p.Pro83Arg) in ATP1A1 (P05023) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P83R (p.Pro83Arg) variant details
- p.Pro83Arg
- gnomAD rs1346636921
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.78
- MetaLR 0.69
- MetaSVM 0.47
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0014)
- Structural context available