F60S (p.Phe60Ser) variant of KCNJ11 (Q14654)
F60S (p.Phe60Ser) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
F60S (p.Phe60Ser) variant details
- p.Phe60Ser
- rs387906783
- ClinGen CA379775970
- ClinVar RCV000500789
- Ensembl rs387906783
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- AlphaMissense 0.98
- MetaLR 0.46
- MetaSVM 0.06
- SIFT 0.00
- MutPred 0.90
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Structural context available