I74V (p.Ile74Val) variant of COL5A2 (Collagen alpha-2(V) chain)
I74V (p.Ile74Val) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar 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 0.29 / 1. The record also includes population frequency data and structural context.
I74V (p.Ile74Val) variant details
- p.Ile74Val
- TOPMed rs1687236147
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.08
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.78
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available