M1V (p.Met1Val) variant of BBS2 (BBSome complex member BBS2)
M1V (p.Met1Val) 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 Retinal dystrophy; Retinitis pigmentosa 74. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs753338961
- ClinGen CA8066155
- ClinVar RCV003889735
- ClinVar RCV005871359
- Uncertain significance
- Retinal dystrophy; Retinitis pigmentosa 74
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- MetaLR 0.68
- MetaSVM 0.48
- SIFT 0.01
- MutPred 0.98
- ClinVar: Uncertain significance (Retinal dystrophy; Retinitis pigmentosa 74)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available