P18R (p.Pro18Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
P18R (p.Pro18Arg) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- rs1367516173
- ClinGen CA375443878
- ClinVar RCV002612610
- 1000Genomes rs1367516173
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.25
- CADD 13.00
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)