A136V (p.Ala136Val) variant of BBS2 (BBSome complex member BBS2)
A136V (p.Ala136Val) 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 0.43 / 1. The record also includes population frequency data and structural context.
A136V (p.Ala136Val) variant details
- p.Ala136Val
- cosmic curated COSV10730
- ExAC rs373166163
- TOPMed rs373166163
- gnomAD rs373166163
- Uncertain significance
- Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.35
- CADD 20.40
- PolyPhen-2 0.03
- SIFT 0.63
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2; Retinitis pigmentosa 74)
- EBI: Variant of uncertain significance (in BBS2)
- UniProt: Uncertain significance (in BBS2)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available