P61L (p.Pro61Leu) variant of BBS2 (BBSome complex member BBS2)
P61L (p.Pro61Leu) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P61L (p.Pro61Leu) variant details
- p.Pro61Leu
- ExAC rs745430885
- gnomAD rs745430885
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.20
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.27
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available