I66M (p.Ile66Met) variant of COL3A1 (Collagen alpha-1(III) chain)
I66M (p.Ile66Met) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; not speci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I66M (p.Ile66Met) variant details
- p.Ile66Met
- rs372269408
- ClinGen CA074891
- cosmic curated COSV58582
- ClinVar RCV000634706
- Conflicting interpretations
- not provided; Familial thoracic aortic aneurysm and aortic dissection; not speci
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.13
- MetaLR 0.21
- MetaSVM -0.96
- CADD 16.00
- PolyPhen-2 0.05
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-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)