F104S (p.Phe104Ser) variant of KCNQ2 (O43526)
F104S (p.Phe104Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
F104S (p.Phe104Ser) variant details
- p.Phe104Ser
- rs1064796940
- ClinGen CA16620979
- ClinVar RCV000483630
- Ensembl rs1064796940
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- AlphaMissense 0.97
- MetaLR 0.86
- MetaSVM 0.82
- PolyPhen-2 0.49
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available