S70N (p.Ser70Asn) variant of BBS2 (BBSome complex member BBS2)
S70N (p.Ser70Asn) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; Retinitis pigmentosa 74; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S70N (p.Ser70Asn) variant details
- p.Ser70Asn
- rs4784677
- ClinGen CA8066097
- cosmic curated COSV10730
- ClinVar RCV000301991
- Benign
- not specified; Retinitis pigmentosa 74; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.27
- AlphaMissense 0.24
- MetaLR 0.66
- MetaSVM 0.00
- CADD 17.50
- PolyPhen-2 0.00
- ClinVar: Benign (not specified; Retinitis pigmentosa 74; not provided)
- EBI: Pathogenic (in dbSNP:rs4784677)
- UniProt: Pathogenic (in dbSNP:rs4784677)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). (PMID 11285252)
- Cited in: Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID 14702039)