R32R (p.Arg32Arg) variant of KCNE1 (P15382)
R32R (p.Arg32Arg) in KCNE1 (P15382) 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, experimental measurements, published literature, and structural context.
R32R (p.Arg32Arg) variant details
- p.Arg32Arg
- gnomAD 21-34449539-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 6.84
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.48
- Literature evidence available