I20V (p.Ile20Val) variant of COL3A1 (Collagen alpha-1(III) chain)
I20V (p.Ile20Val) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I20V (p.Ile20Val) variant details
- p.Ile20Val
- rs1342128671
- ClinGen CA349845457
- NCI-TCGA Cosmic COSV5859
- cosmic curated COSV58595
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.33
- MetaLR 0.33
- MetaSVM -0.53
- CADD 5.17
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.3e-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)