R36A (p.Arg36Ala) variant of KCNE1 (P15382)
R36A (p.Arg36Ala) in KCNE1 (P15382) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R36A (p.Arg36Ala) variant details
- p.Arg36Ala
- rs1568836956
- gnomAD 21-34449528-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 12.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-06)
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.22
- Literature evidence available