H35Y (p.His35Tyr) variant of BBS1 (BBSome complex member BBS1)
H35Y (p.His35Tyr) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
H35Y (p.His35Tyr) variant details
- p.His35Tyr
- TOPMed rs1371485927
- gnomAD rs1371485927
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.26
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available