H46Y (p.His46Tyr) variant of BBS2 (BBSome complex member BBS2)
H46Y (p.His46Tyr) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
H46Y (p.His46Tyr) variant details
- p.His46Tyr
- ExAC rs762792627
- gnomAD rs762792627
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.65
- CADD 23.20
- PolyPhen-2 0.38
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available