H46L (p.His46Leu) variant of BBS2 (BBSome complex member BBS2)
H46L (p.His46Leu) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
H46L (p.His46Leu) variant details
- p.His46Leu
- gnomAD rs1272132776
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.83
- CADD 23.20
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available