Y52H (p.Tyr52His) variant of BBS1 (BBSome complex member BBS1)
Y52H (p.Tyr52His) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Y52H (p.Tyr52His) variant details
- p.Tyr52His
- Ensembl rs1565280390
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.26
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available