N5K (p.Asn5Lys) variant of KCNE1 (P15382)
N5K (p.Asn5Lys) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N5K (p.Asn5Lys) variant details
- p.Asn5Lys
- ExAC rs762400333
- gnomAD rs762400333
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.59
- CADD 9.59
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 0.916