V5M (p.Val5Met) variant of COL3A1 (Collagen alpha-1(III) chain)
V5M (p.Val5Met) 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 provided; not specified; Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- rs1461198652
- ClinGen CA349845362
- ClinVar RCV000507209
- ClinVar RCV000702640
- Uncertain significance
- not provided; not specified; Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.58
- MetaLR 0.81
- MetaSVM 0.78
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; not specified; Ehlers-Danlos syndrome, type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)