D65G (p.Asp65Gly) variant of BBS2 (BBSome complex member BBS2)
D65G (p.Asp65Gly) 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 0.61 / 1. The record also includes population frequency data and structural context.
D65G (p.Asp65Gly) variant details
- p.Asp65Gly
- ExAC rs746643609
- gnomAD rs746643609
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.60
- CADD 26.20
- PolyPhen-2 0.51
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available