S8L (p.Ser8Leu) variant of KRT9 (Keratin, type I cytoskeletal 9)
S8L (p.Ser8Leu) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S8L (p.Ser8Leu) variant details
- p.Ser8Leu
- rs759755813
- ClinGen CA8562356
- ClinVar RCV002854757
- ClinVar RCV006473035
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.29
- CADD 2.58
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)