V14A (p.Val14Ala) variant of BBS4 (BBSome complex member BBS4)
V14A (p.Val14Ala) in BBS4 (BBSome complex member BBS4) is a missense change. The record also includes structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- Ensembl rs764379682
- Missense
- Structural context available