E54K (p.Glu54Lys) variant of PDE6B (P35913)
E54K (p.Glu54Lys) in PDE6B (P35913) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- rs1173402643
- gnomAD rs1173402643
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.38
- MetaLR 0.41
- MetaSVM -0.16
- CADD 23.30
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available