V44I (p.Val44Ile) variant of COL3A1 (Collagen alpha-1(III) chain)
V44I (p.Val44Ile) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V44I (p.Val44Ile) variant details
- p.Val44Ile
- rs79632685
- ClinGen CA004218
- ClinVar RCV000226945
- ClinVar RCV001183976
- Likely benign
- not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.27
- MetaLR 0.47
- MetaSVM -0.28
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.90
- ClinVar: Likely benign (not specified; not provided; Familial thoracic aortic aneurysm a)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)