Q64H (p.Gln64His) variant of PDE6B (P35913)
Q64H (p.Gln64His) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, 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 0.24 / 1. The record also includes population frequency data and structural context.
Q64H (p.Gln64His) variant details
- p.Gln64His
- rs1340296893
- ClinGen CA355906355
- ClinVar RCV001990740
- TOPMed rs1340296893
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.14
- MetaLR 0.33
- MetaSVM -0.46
- CADD 19.60
- PolyPhen-2 0.42
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available