T6N (p.Thr6Asn) variant of KCNE1 (P15382)
T6N (p.Thr6Asn) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T6N (p.Thr6Asn) variant details
- p.Thr6Asn
- gnomAD 21-34449618-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 5.90
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.37
- Literature evidence available