I123V (p.Ile123Val) variant of BBS2 (BBSome complex member BBS2)
I123V (p.Ile123Val) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa 74; Early onset severe obesity; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I123V (p.Ile123Val) variant details
- p.Ile123Val
- rs11373
- ClinGen CA8066062
- cosmic curated COSV55325
- ClinVar RCV000241605
- Conflicting interpretations
- Retinitis pigmentosa 74; Early onset severe obesity; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.17
- CADD 7.88
- PolyPhen-2 0.01
- SIFT 0.58
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 74; Early onset severe obesity; not provide)
- EBI: Benign (in dbSNP:rs11373)
- UniProt: Benign (in dbSNP:rs11373)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). (PMID 11285252)
- Cited in: Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. (PMID 15666242)