V60L (p.Val60Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
V60L (p.Val60Leu) 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 Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
V60L (p.Val60Leu) variant details
- p.Val60Leu
- rs762028131
- ClinGen CA349847111
- ClinVar RCV004012321
- Uncertain significance
- Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.07
- MetaLR 0.30
- MetaSVM -0.62
- PolyPhen-2 0.98
- SIFT 0.34
- MutPred 0.55
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)