D118V (p.Asp118Val) variant of BBS2 (BBSome complex member BBS2)
D118V (p.Asp118Val) 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 0.80 / 1. The record also includes population frequency data and structural context.
D118V (p.Asp118Val) variant details
- p.Asp118Val
- TOPMed rs1168794394
- gnomAD rs1168794394
- Uncertain significance
- Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.91
- CADD 28.50
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2; Retinitis pigmentosa 74)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available