G38C (p.Gly38Cys) variant of BBS2 (BBSome complex member BBS2)
G38C (p.Gly38Cys) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
G38C (p.Gly38Cys) variant details
- p.Gly38Cys
- ExAC rs768699088
- TOPMed rs768699088
- gnomAD rs768699088
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.72
- CADD 31.00
- PolyPhen-2 0.74
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available