V54I (p.Val54Ile) variant of COL3A1 (Collagen alpha-1(III) chain)
V54I (p.Val54Ile) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, type 4. The record also includes variant effect predictions and structural context.
V54I (p.Val54Ile) variant details
- p.Val54Ile
- NCI-TCGA Cosmic COSV1043
- NCI-TCGA Cosmic COSV5858
- cosmic curated COSV58582
- gnomAD rs1425860292
- Uncertain significance
- Ehlers-Danlos syndrome, type 4
- Missense
- MetaLR 0.26
- MetaSVM -0.70
- SIFT 0.05
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4)
- UniProt: Uncertain significance
- Structural context available