P18R (p.Pro18Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
P18R (p.Pro18Arg) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- rs1687767062
- ClinGen CA349845447
- ClinVar RCV002618001
- TOPMed rs1687767062
- Uncertain significance
- Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.58
- MetaLR 0.65
- MetaSVM 0.22
- CADD 23.40
- PolyPhen-2 0.71
- SIFT 0.52
- 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 2.2e-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)