I2N (p.Ile2Asn) variant of KCNE1 (P15382)
I2N (p.Ile2Asn) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes experimental measurements and structural context.
I2N (p.Ile2Asn) variant details
- p.Ile2Asn
- ESP rs369808496
- ExAC rs369808496
- gnomAD rs369808496
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.09
- Structural context available
- Functional MAVE scores for KCNE1: score 1.26