S7F (p.Ser7Phe) variant of KRT1 (Keratin, type II cytoskeletal 1)
S7F (p.Ser7Phe) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.49 / 1. The record also includes structural context.
S7F (p.Ser7Phe) variant details
- p.Ser7Phe
- rs1941567848
- ClinGen CA384977277
- ClinVar RCV003391849
- TOPMed rs1941567848
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.36
- MetaLR 0.44
- MetaSVM -0.62
- PolyPhen-2 0.00
- SIFT 0.69
- MutPred 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available