N26K (p.Asn26Lys) variant of KCNE1 (P15382)
N26K (p.Asn26Lys) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N26K (p.Asn26Lys) variant details
- p.Asn26Lys
- gnomAD 21-34449557-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 9.78
- PolyPhen-2 0.20
- SIFT 0.02
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.43
- Literature evidence available