S98N (p.Ser98Asn) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S98N (p.Ser98Asn) in KRT6B (Keratin, type II cytoskeletal 6B) 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 0.23 / 1. The record also includes population frequency data and structural context.
S98N (p.Ser98Asn) variant details
- p.Ser98Asn
- 1000Genomes rs780990421
- ExAC rs780990421
- gnomAD rs780990421
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.25
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available