D17H (p.Asp17His) variant of KCNJ2 (P63252)
D17H (p.Asp17His) in KCNJ2 (P63252) 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 0.42 / 1. The record also includes population frequency data and structural context.
D17H (p.Asp17His) variant details
- p.Asp17His
- gnomAD rs1331601602
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.25
- AlphaMissense 0.14
- MetaLR 0.13
- MetaSVM -1.05
- CADD 24.20
- PolyPhen-2 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available