A134P (p.Ala134Pro) variant of COL5A2 (Collagen alpha-2(V) chain)
A134P (p.Ala134Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
A134P (p.Ala134Pro) variant details
- p.Ala134Pro
- rs762420291
- ClinGen CA349863880
- ClinVar RCV002780211
- ClinVar RCV006281063
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 0.08
- MetaLR 0.50
- MetaSVM -0.35
- PolyPhen-2 0.71
- SIFT 0.21
- EVE 0.09
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)