Q23K (p.Gln23Lys) variant of KCNE1 (P15382)
Q23K (p.Gln23Lys) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q23K (p.Gln23Lys) variant details
- p.Gln23Lys
- cosmic curated COSV10742
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.4e-06)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.33