I65T (p.Ile65Thr) variant of COL3A1 (Collagen alpha-1(III) chain)
I65T (p.Ile65Thr) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm and aortic dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I65T (p.Ile65Thr) variant details
- p.Ile65Thr
- rs1050728178
- ClinGen CA62585446
- ClinVar RCV001191755
- ClinVar RCV006465698
- Uncertain significance
- Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm and aortic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.49
- MetaLR 0.34
- MetaSVM -0.55
- CADD 24.70
- PolyPhen-2 0.33
- SIFT 0.00
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)