N26T (p.Asn26Thr) variant of KCNE1 (P15382)
N26T (p.Asn26Thr) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N26T (p.Asn26Thr) variant details
- p.Asn26Thr
- gnomAD 21-34449558-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.43
- Literature evidence available