S31P (p.Ser31Pro) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S31P (p.Ser31Pro) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar, EBI, 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 0.28 / 1. The record also includes population frequency data and structural context.
S31P (p.Ser31Pro) variant details
- p.Ser31Pro
- ExAC rs768829710
- TOPMed rs768829710
- gnomAD rs768829710
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.19
- CADD 20.80
- PolyPhen-2 0.28
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available