S82N (p.Ser82Asn) variant of KRT9 (Keratin, type I cytoskeletal 9)
S82N (p.Ser82Asn) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Palmoplantar keratoderma, epidermolytic; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S82N (p.Ser82Asn) variant details
- p.Ser82Asn
- rs148867398
- ClinGen CA8562282
- ClinVar RCV000302638
- ClinVar RCV002061225
- Likely benign
- Palmoplantar keratoderma, epidermolytic; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.25
- CADD 19.70
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Likely benign (Palmoplantar keratoderma, epidermolytic; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available