S5F (p.Ser5Phe) variant of KCNE2 (Q9Y6J6)
S5F (p.Ser5Phe) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- rs2123423461
- ClinGen CA410196094
- ClinVar RCV001765067
- Ensembl rs2123423461
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.59
- MetaSVM -0.04
- CADD 19.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available