S55P (p.Ser55Pro) variant of KRT14 (Keratin, type I cytoskeletal 14)
S55P (p.Ser55Pro) in KRT14 (Keratin, type I cytoskeletal 14) 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 0.42 / 1. The record also includes structural context.
S55P (p.Ser55Pro) variant details
- p.Ser55Pro
- rs2144586557
- ClinGen CA399483236
- ClinVar RCV002042420
- Ensembl rs2144586557
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.25
- MetaLR 0.42
- MetaSVM -0.48
- PolyPhen-2 0.01
- SIFT 0.23
- EVE 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available