A364E (p.Ala364Glu) variant of BBS4 (BBSome complex member BBS4)
A364E (p.Ala364Glu) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A364E (p.Ala364Glu) variant details
- p.Ala364Glu
- rs28938468
- ClinGen CA254672
- ClinVar RCV000009719
- ClinVar RCV003228893
- Likely pathogenic
- Bardet-Biedl syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.91
- MetaLR 0.85
- MetaSVM 0.90
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome 4)
- EBI: Pathogenic (in BBS4)
- UniProt: Pathogenic (in BBS4)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. (PMID 12016587)
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)