V60I (p.Val60Ile) variant of COL3A1 (Collagen alpha-1(III) chain)
V60I (p.Val60Ile) 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 not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V60I (p.Val60Ile) variant details
- p.Val60Ile
- rs762028131
- ClinGen CA074644
- NCI-TCGA Cosmic COSV5858
- cosmic curated COSV58584
- Uncertain significance
- not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.28
- AlphaMissense 0.07
- MetaLR 0.30
- MetaSVM -0.62
- CADD 22.70
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (not specified; not provided; Familial thoracic aortic aneurysm a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)