Q23L (p.Gln23Leu) variant of KCNE1 (P15382)
Q23L (p.Gln23Leu) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q23L (p.Gln23Leu) variant details
- p.Gln23Leu
- ExAC rs778331220
- gnomAD rs778331220
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 5.62
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.33