N67S (p.Asn67Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
N67S (p.Asn67Ser) 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 0.26 / 1. The record also includes population frequency data and structural context.
N67S (p.Asn67Ser) variant details
- p.Asn67Ser
- TOPMed rs1007089956
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.10
- CADD 14.80
- PolyPhen-2 0.12
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available