S70= variant of BBS2 (BBSome complex member BBS2)
S70= in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S70= variant details
- rs4784677
- ClinVar RCV000004838
- ClinVar RCV000860491
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- AlphaMissense 0.24
- MetaLR 0.66
- MetaSVM 0.00
- SIFT 0.00
- MutPred 0.52
- EBI: Pathogenic (in dbSNP:rs4784677)
- UniProt: Pathogenic (in dbSNP:rs4784677)
- Population evidence available
- Structural context available
- Cited in: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. (PMID 11567139)
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)