R54P (p.Arg54Pro) variant of KCNJ11 (Q14654)
R54P (p.Arg54Pro) in KCNJ11 (Q14654) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R54P (p.Arg54Pro) variant details
- p.Arg54Pro
- gnomAD 11-17387931-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.823
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available