L16P (p.Leu16Pro) variant of KCNE1 (P15382)
L16P (p.Leu16Pro) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- Ensembl rs1981057774
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.90
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 23.40
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 0.00021)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.25