S31C (p.Ser31Cys) variant of KRT4 (Keratin, type II cytoskeletal 4)
S31C (p.Ser31Cys) in KRT4 (Keratin, type II cytoskeletal 4) 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 0.59 / 1. The record also includes population frequency data and structural context.
S31C (p.Ser31Cys) variant details
- p.Ser31Cys
- ExAC rs761074216
- gnomAD rs761074216
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.63
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available