A122V (p.Ala122Val) variant of BBS2 (BBSome complex member BBS2)
A122V (p.Ala122Val) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 2; Retinitis pigmentosa 74. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A122V (p.Ala122Val) variant details
- p.Ala122Val
- rs17856449
- ClinGen CA281484611
- ClinVar RCV000671722
- ClinVar RCV002485555
- Uncertain significance
- Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.14
- MetaLR 0.45
- MetaSVM -0.30
- SIFT 0.26
- MutPred 0.23
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2; Retinitis pigmentosa 74)
- EBI: Variant of uncertain significance (in dbSNP:rs17856449)
- UniProt: Uncertain significance (in dbSNP:rs17856449)
- Population evidence available
- Structural context available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)