R36R (p.Arg36Arg) variant of KCNE1 (P15382)
R36R (p.Arg36Arg) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R36R (p.Arg36Arg) variant details
- p.Arg36Arg
- rs200187147
- gnomAD 21-34449527-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.83
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.22
- Literature evidence available