S69N (p.Ser69Asn) variant of KRT3 (Keratin, type II cytoskeletal 3)
S69N (p.Ser69Asn) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S69N (p.Ser69Asn) variant details
- p.Ser69Asn
- 1000Genomes rs199517745
- ExAC rs199517745
- TOPMed rs199517745
- gnomAD rs199517745
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.26
- CADD 15.90
- PolyPhen-2 0.68
- SIFT 0.33
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available