G481V (p.Gly481Val) variant of COL5A1 (Collagen alpha-1(V) chain)
G481V (p.Gly481Val) 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 Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G481V (p.Gly481Val) variant details
- p.Gly481Val
- rs1588488587
- ClinGen CA375441286
- NCI-TCGA Cosmic COSV6566
- cosmic curated COSV65669
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- 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)