T87P (p.Thr87Pro) variant of COL5A2 (Collagen alpha-2(V) chain)
T87P (p.Thr87Pro) 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 0.37 / 1. The record also includes published literature and structural context.
T87P (p.Thr87Pro) variant details
- p.Thr87Pro
- rs1687234505
- ClinGen CA349867697
- ClinVar RCV002239286
- Ensembl rs1687234505
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.12
- MetaLR 0.20
- MetaSVM -0.86
- PolyPhen-2 0.64
- SIFT 0.03
- MutPred 0.42
- 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)