R32S (p.Arg32Ser) variant of KCNE1 (P15382)
R32S (p.Arg32Ser) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R32S (p.Arg32Ser) variant details
- p.Arg32Ser
- gnomAD 21-34449541-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 19.60
- PolyPhen-2 0.44
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 3.1e-06)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.48
- Literature evidence available