E49G (p.Glu49Gly) variant of BBS4 (BBSome complex member BBS4)
E49G (p.Glu49Gly) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E49G (p.Glu49Gly) variant details
- p.Glu49Gly
- gnomAD rs1306734630
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.17
- MetaLR 0.10
- MetaSVM -1.01
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available