K3R (p.Lys3Arg) variant of ATP1A1 (P05023)
K3R (p.Lys3Arg) 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 0.32 / 1. The record also includes population frequency data and structural context.
K3R (p.Lys3Arg) variant details
- p.Lys3Arg
- cosmic curated COSV55190
- Ensembl rs976510541
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.22
- MetaLR 0.36
- MetaSVM -0.61
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available