P61L (p.Pro61Leu) variant of BBS1 (BBSome complex member BBS1)
P61L (p.Pro61Leu) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P61L (p.Pro61Leu) variant details
- p.Pro61Leu
- TOPMed rs1856007267
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.22
- CADD 18.60
- PolyPhen-2 0.08
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available