S37I (p.Ser37Ile) variant of KCNE1 (P15382)
S37I (p.Ser37Ile) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S37I (p.Ser37Ile) variant details
- p.Ser37Ile
- gnomAD 21-34449525-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 5.16
- PolyPhen-2 0.10
- SIFT 0.07
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.26
- Literature evidence available