S19N (p.Ser19Asn) variant of KRT6A (Keratin, type II cytoskeletal 6A)
S19N (p.Ser19Asn) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of KRT6A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S19N (p.Ser19Asn) variant details
- p.Ser19Asn
- rs201201647
- ClinGen CA6582352
- ClinVar RCV003954609
- 1000Genomes rs201201647
- Likely benign
- KRT6A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.31
- CADD 21.60
- PolyPhen-2 0.20
- SIFT 0.01
- ClinVar: Likely benign (KRT6A-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available