E33G (p.Glu33Gly) variant of BBS4 (BBSome complex member BBS4)
E33G (p.Glu33Gly) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- 1000Genomes rs141156155
- ExAC rs141156155
- gnomAD rs141156155
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.60
- MetaLR 0.35
- MetaSVM -0.26
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available