R56S (p.Arg56Ser) variant of BBS2 (BBSome complex member BBS2)
R56S (p.Arg56Ser) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R56S (p.Arg56Ser) variant details
- p.Arg56Ser
- cosmic curated COSV55326
- gnomAD rs1964681550
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.56
- CADD 15.90
- PolyPhen-2 0.25
- SIFT 0.08
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available