G23S (p.Gly23Ser) variant of KRT16 (Keratin, type I cytoskeletal 16)
G23S (p.Gly23Ser) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Pachyonychia congenita 1; Palmoplantar keratoderma, nonepidermolytic, focal 1; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- rs7226192
- ClinGen CA8563365
- ClinVar RCV000968354
- ClinVar RCV002489400
- Benign/Likely benign
- Pachyonychia congenita 1; Palmoplantar keratoderma, nonepidermolytic, focal 1; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.31
- CADD 15.90
- PolyPhen-2 0.86
- SIFT 0.20
- ClinVar: Benign/Likely benign (Pachyonychia congenita 1; Palmoplantar keratoderma, nonepidermol)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Pachyonychia Congenita. (PMID 20301457)