P29S (p.Pro29Ser) variant of BBS2 (BBSome complex member BBS2)
P29S (p.Pro29Ser) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- 1000Genomes rs562585023
- gnomAD rs562585023
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.36
- CADD 23.40
- PolyPhen-2 0.11
- SIFT 0.09
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available