L15V (p.Leu15Val) variant of COL3A1 (Collagen alpha-1(III) chain)
L15V (p.Leu15Val) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- rs1278335125
- ClinGen CA349845427
- ClinVar RCV003633316
- TOPMed rs1278335125
- Uncertain significance
- Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.18
- MetaLR 0.38
- MetaSVM -0.71
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)