K15R (p.Lys15Arg) variant of KCNE1 (P15382)
K15R (p.Lys15Arg) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K15R (p.Lys15Arg) variant details
- p.Lys15Arg
- gnomAD 21-34449591-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.6e-06)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.56
- Literature evidence available