G96S (p.Gly96Ser) variant of KRT9 (Keratin, type I cytoskeletal 9)
G96S (p.Gly96Ser) 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 not provided; Inborn genetic diseases; Palmoplantar keratoderma, epidermolytic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G96S (p.Gly96Ser) variant details
- p.Gly96Ser
- rs145530082
- ClinGen CA8562271
- ClinVar RCV000397762
- ClinVar RCV002522958
- Conflicting interpretations
- not provided; Inborn genetic diseases; Palmoplantar keratoderma, epidermolytic
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.35
- CADD 0.67
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Palmoplantar keratoderma,)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)