T27S (p.Thr27Ser) variant of BBS2 (BBSome complex member BBS2)
T27S (p.Thr27Ser) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T27S (p.Thr27Ser) variant details
- p.Thr27Ser
- ExAC rs776681366
- TOPMed rs776681366
- gnomAD rs776681366
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.04
- AlphaMissense 0.24
- MetaLR 0.16
- MetaSVM -0.87
- CADD 21.90
- PolyPhen-2 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available