R216P (p.Arg216Pro) variant of BBS2 (BBSome complex member BBS2)
R216P (p.Arg216Pro) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R216P (p.Arg216Pro) variant details
- p.Arg216Pro
- 1000Genomes rs374487957
- ESP rs374487957
- ExAC rs374487957
- gnomAD rs374487957
- Likely pathogenic
- Bardet-Biedl syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.53
- CADD 28.80
- PolyPhen-2 0.91
- SIFT 0.03
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome 2)
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available