R56K (p.Arg56Lys) variant of BBS2 (BBSome complex member BBS2)
R56K (p.Arg56Lys) in BBS2 (BBSome complex member BBS2) is a missense change. 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.
R56K (p.Arg56Lys) variant details
- p.Arg56Lys
- Ensembl rs1964681625
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.60
- CADD 22.30
- PolyPhen-2 0.25
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available