L78Q (p.Leu78Gln) variant of BBS2 (BBSome complex member BBS2)
L78Q (p.Leu78Gln) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
L78Q (p.Leu78Gln) variant details
- p.Leu78Gln
- TOPMed rs1310869146
- gnomAD rs1310869146
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.94
- CADD 27.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available