S31N (p.Ser31Asn) variant of KRT4 (Keratin, type II cytoskeletal 4)
S31N (p.Ser31Asn) 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 0.55 / 1. The record also includes population frequency data and structural context.
S31N (p.Ser31Asn) variant details
- p.Ser31Asn
- TOPMed rs1401851804
- gnomAD rs1401851804
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.47
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available