I65V (p.Ile65Val) variant of COL3A1 (Collagen alpha-1(III) chain)
I65V (p.Ile65Val) 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 Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I65V (p.Ile65Val) variant details
- p.Ile65Val
- rs1440480352
- ClinGen CA349847164
- ClinVar RCV001227423
- ClinVar RCV001806062
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.09
- MetaLR 0.14
- MetaSVM -1.00
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)