C81F (p.Cys81Phe) variant of SMAD2 (SMAD family member 2)
C81F (p.Cys81Phe) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
C81F (p.Cys81Phe) variant details
- p.Cys81Phe
- rs908853616
- ClinGen CA300260225
- ClinVar RCV001968695
- ClinVar RCV002458902
- Uncertain significance
- not provided; not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.58
- CADD 22.60
- PolyPhen-2 0.29
- SIFT 0.27
- ClinVar: Uncertain significance (not provided; not specified; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- 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)