R5G (p.Arg5Gly) variant of BBS4 (BBSome complex member BBS4)
R5G (p.Arg5Gly) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- NCI-TCGA Cosmic COSV9916
- TOPMed rs1293905470
- gnomAD rs1293905470
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.27
- MetaLR 0.17
- MetaSVM -0.98
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available