Q11R (p.Gln11Arg) variant of BBS4 (BBSome complex member BBS4)
Q11R (p.Gln11Arg) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q11R (p.Gln11Arg) variant details
- p.Gln11Arg
- gnomAD rs1428455125
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.29
- MetaLR 0.19
- MetaSVM -0.96
- CADD 5.88
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available