E38K (p.Glu38Lys) variant of FAT1 (Protocadherin Fat 1)
E38K (p.Glu38Lys) in FAT1 (Protocadherin Fat 1) 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 record also includes variant effect predictions, population frequency data, and published literature.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- rs751034262
- ClinGen CA3167725
- NCI-TCGA Cosmic COSV1014
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- REVEL 0.24
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)