H40R (p.His40Arg) variant of BBS4 (BBSome complex member BBS4)
H40R (p.His40Arg) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
H40R (p.His40Arg) variant details
- p.His40Arg
- TOPMed rs1190175927
- gnomAD rs1190175927
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.59
- MetaLR 0.35
- MetaSVM -0.28
- CADD 24.70
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available