V57I (p.Val57Ile) variant of BBS2 (BBSome complex member BBS2)
V57I (p.Val57Ile) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
V57I (p.Val57Ile) variant details
- p.Val57Ile
- Ensembl rs1567584954
- Missense
- Structural context available