S34P (p.Ser34Pro) variant of KRT12 (Keratin, type I cytoskeletal 12)
S34P (p.Ser34Pro) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes population frequency data, published literature, and structural context.
S34P (p.Ser34Pro) variant details
- p.Ser34Pro
- rs781154839
- ExAC rs781154839
- TOPMed rs781154839
- ClinGen CA8548962
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)