P16L (p.Pro16Leu) variant of BBS2 (BBSome complex member BBS2)
P16L (p.Pro16Leu) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- Ensembl rs1567588835
- Missense
- Structural context available