P85S (p.Pro85Ser) variant of BBS2 (BBSome complex member BBS2)
P85S (p.Pro85Ser) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P85S (p.Pro85Ser) variant details
- p.Pro85Ser
- ESP rs371970109
- TOPMed rs371970109
- gnomAD rs371970109
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.30
- CADD 21.60
- PolyPhen-2 0.06
- SIFT 0.15
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available