Q23R (p.Gln23Arg) variant of KCNE1 (P15382)
Q23R (p.Gln23Arg) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q23R (p.Gln23Arg) variant details
- p.Gln23Arg
- cosmic curated COSV10590
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 1.64
- PolyPhen-2 0.00
- SIFT 0.42
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.33