A36T (p.Ala36Thr) variant of COL7A1 (Collagen alpha-1(VII) chain)
A36T (p.Ala36Thr) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The record also includes variant effect predictions, population frequency data, and published literature.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- rs766254851
- ClinGen CA2381643
- ClinVar RCV002660906
- ClinVar RCV005631109
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- CADD 22.80
- PolyPhen-2 0.54
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- 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)