K43R (p.Lys43Arg) variant of ATP1A2 (P50993)
K43R (p.Lys43Arg) in ATP1A2 (P50993) 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 0.39 / 1. The record also includes population frequency data and structural context.
K43R (p.Lys43Arg) variant details
- p.Lys43Arg
- rs796052281
- ClinGen CA313346
- ClinVar RCV000186811
- Ensembl rs796052281
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.30
- CADD 22.80
- PolyPhen-2 0.11
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available