Q35H (p.Gln35His) variant of BBS4 (BBSome complex member BBS4)
Q35H (p.Gln35His) 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 0.23 / 1. The record also includes population frequency data and structural context.
Q35H (p.Gln35His) variant details
- p.Gln35His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.08
- MetaLR 0.12
- MetaSVM -1.05
- CADD 22.60
- PolyPhen-2 0.17
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available