R72P (p.Arg72Pro) variant of KCNJ5 (P48544)
R72P (p.Arg72Pro) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R72P (p.Arg72Pro) variant details
- p.Arg72Pro
- gnomAD rs1294878768
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.20
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available