S73N (p.Ser73Asn) variant of KRT16 (Keratin, type I cytoskeletal 16)
S73N (p.Ser73Asn) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S73N (p.Ser73Asn) variant details
- p.Ser73Asn
- gnomAD rs1257388530
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.25
- CADD 22.50
- PolyPhen-2 0.55
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available