P58H (p.Pro58His) variant of COL5A2 (Collagen alpha-2(V) chain)
P58H (p.Pro58His) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
P58H (p.Pro58His) variant details
- p.Pro58His
- rs766925699
- ClinGen CA349868322
- ClinVar RCV002231321
- TOPMed rs766925699
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.13
- MetaLR 0.46
- MetaSVM 0.07
- PolyPhen-2 0.95
- SIFT 0.01
- MutPred 0.82
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)