V22F (p.Val22Phe) variant of COL5A2 (Collagen alpha-2(V) chain)
V22F (p.Val22Phe) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
V22F (p.Val22Phe) variant details
- p.Val22Phe
- ExAC rs746289356
- TOPMed rs746289356
- gnomAD rs746289356
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available