S34Y (p.Ser34Tyr) variant of KCNE1 (P15382)
S34Y (p.Ser34Tyr) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S34Y (p.Ser34Tyr) variant details
- p.Ser34Tyr
- ExAC rs774614463
- gnomAD rs774614463
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM 0.03
- CADD 17.60
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.31