K13E (p.Lys13Glu) variant of BBS2 (BBSome complex member BBS2)
K13E (p.Lys13Glu) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- gnomAD rs1350633457
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.78
- CADD 32.00
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available