S84G (p.Ser84Gly) variant of KRT9 (Keratin, type I cytoskeletal 9)
S84G (p.Ser84Gly) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Palmoplantar keratoderma, epidermolytic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S84G (p.Ser84Gly) variant details
- p.Ser84Gly
- rs563000405
- ClinGen CA8562280
- NCI-TCGA Cosmic COSV5585
- ClinVar RCV001126938
- Conflicting interpretations
- Inborn genetic diseases; not provided; Palmoplantar keratoderma, epidermolytic
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.26
- CADD 7.63
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Palmoplantar keratoderma,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)