G126S (p.Gly126Ser) variant of KRT10 (Keratin, type I cytoskeletal 10)
G126S (p.Gly126Ser) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Congenital reticular ichthyosiform erythroderma; Epidermolytic ichthyosis; Annul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and published literature.
G126S (p.Gly126Ser) variant details
- p.Gly126Ser
- rs77919366
- ClinGen CA216584
- ClinVar RCV000056489
- ClinVar RCV002496745
- Benign/Likely benign
- Congenital reticular ichthyosiform erythroderma; Epidermolytic ichthyosis; Annul
- Missense
- Variant Prioritization Score for Impact Estimate 0.0737
- REVEL 0.08
- CADD 0.36
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Benign/Likely benign (Congenital reticular ichthyosiform erythroderma; Epidermolytic i)
- EBI: Benign (in dbSNP:rs77919366)
- UniProt: Benign (in dbSNP:rs77919366)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28… (PMID 21271994)
- Cited in: Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location… (PMID 7512983)