K13R (p.Lys13Arg) variant of BBS2 (BBSome complex member BBS2)
K13R (p.Lys13Arg) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
K13R (p.Lys13Arg) variant details
- p.Lys13Arg
- ESP rs145463052
- ExAC rs145463052
- gnomAD rs145463052
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.72
- CADD 23.60
- PolyPhen-2 0.16
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available