K26Q (p.Lys26Gln) variant of PDE6B (P35913)
K26Q (p.Lys26Gln) in PDE6B (P35913) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
K26Q (p.Lys26Gln) variant details
- p.Lys26Gln
- ExAC rs769473166
- TOPMed rs769473166
- gnomAD rs769473166
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.12
- MetaLR 0.23
- MetaSVM -0.87
- CADD 15.70
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available