R61W (p.Arg61Trp) variant of ATP1A1 (P05023)
R61W (p.Arg61Trp) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R61W (p.Arg61Trp) variant details
- p.Arg61Trp
- rs1651975517
- ClinGen CA341840567
- ClinVar RCV003715485
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.59
- MetaLR 0.54
- MetaSVM 0.21
- CADD 33.00
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.17)
- Structural context available