T19P (p.Thr19Pro) variant of COL3A1 (Collagen alpha-1(III) chain)
T19P (p.Thr19Pro) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
T19P (p.Thr19Pro) variant details
- p.Thr19Pro
- rs1300339107
- ClinGen CA349845450
- ClinVar RCV004013489
- TOPMed rs1300339107
- Uncertain significance
- Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.46
- AlphaMissense 0.10
- MetaLR 0.44
- MetaSVM -0.52
- CADD 18.90
- PolyPhen-2 0.06
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)