P4L (p.Pro4Leu) variant of BBS2 (BBSome complex member BBS2)
P4L (p.Pro4Leu) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- gnomAD rs1200784529
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.87
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available