S34F (p.Ser34Phe) variant of KCNE1 (P15382)
S34F (p.Ser34Phe) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S34F (p.Ser34Phe) variant details
- p.Ser34Phe
- rs774614463
- gnomAD 21-34449534-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM 0.03
- CADD 17.90
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.31
- Literature evidence available