R5R (p.Arg5Arg) variant of KCNJ2 (P63252)
R5R (p.Arg5Arg) in KCNJ2 (P63252) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- rs1042485
- gnomAD 17-70175052-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.26
- MetaLR 0.37
- MetaSVM -0.38
- CADD 10.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available