G19A (p.Gly19Ala) variant of FAT1 (Protocadherin Fat 1)
G19A (p.Gly19Ala) in FAT1 (Protocadherin Fat 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; FAT1-related disorder; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
G19A (p.Gly19Ala) variant details
- p.Gly19Ala
- rs200192750
- ClinGen CA3167738
- ClinVar RCV002124337
- ClinVar RCV004553807
- Conflicting interpretations
- Inborn genetic diseases; FAT1-related disorder; not provided
- Missense
- REVEL 0.14
- CADD 5.31
- PolyPhen-2 0.07
- SIFT 0.88
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; FAT1-related disorder; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence 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)