S50T (p.Ser50Thr) variant of KRT5 (Keratin, type II cytoskeletal 5)
S50T (p.Ser50Thr) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S50T (p.Ser50Thr) variant details
- p.Ser50Thr
- TOPMed rs199505033
- gnomAD rs199505033
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.27
- CADD 20.20
- PolyPhen-2 0.45
- SIFT 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available