V3I (p.Val3Ile) variant of COL5A1 (Collagen alpha-1(V) chain)
V3I (p.Val3Ile) 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 0.30 / 1. The record also includes population frequency data and structural context.
V3I (p.Val3Ile) variant details
- p.Val3Ile
- TOPMed rs1383699147
- gnomAD rs1383699147
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.19
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available