E51K (p.Glu51Lys) variant of BBS1 (BBSome complex member BBS1)
E51K (p.Glu51Lys) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- rs11553180
- gnomAD 11-66514450-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 13.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available