S33F (p.Ser33Phe) variant of KRT10 (Keratin, type I cytoskeletal 10)
S33F (p.Ser33Phe) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Epidermolytic ichthyosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
S33F (p.Ser33Phe) variant details
- p.Ser33Phe
- rs151149062
- ClinGen CA8548360
- ClinVar RCV001332428
- ClinVar RCV004692557
- Uncertain significance
- not provided; Epidermolytic ichthyosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.30
- CADD 21.90
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Epidermolytic ichthyosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)