R41P (p.Arg41Pro) variant of KCNJ5 (P48544)
R41P (p.Arg41Pro) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R41P (p.Arg41Pro) variant details
- p.Arg41Pro
- gnomAD 11-128911395-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.55
- MetaLR 0.64
- MetaSVM -0.18
- CADD 23.70
- PolyPhen-2 0.51
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available