A12T (p.Ala12Thr) variant of COL5A1 (Collagen alpha-1(V) chain)
A12T (p.Ala12Thr) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- rs1160540030
- ClinGen CA375443827
- ClinVar RCV001538248
- ClinVar RCV002231294
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.15
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.002)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)