S34C (p.Ser34Cys) variant of KCNE1 (P15382)
S34C (p.Ser34Cys) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S34C (p.Ser34Cys) variant details
- p.Ser34Cys
- gnomAD 21-34449534-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 5.8e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.31
- Literature evidence available