Q7R (p.Gln7Arg) variant of PDE6B (P35913)
Q7R (p.Gln7Arg) 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 0.17 / 1. The record also includes population frequency data and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- 1000Genomes rs769821115
- ExAC rs769821115
- gnomAD rs769821115
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.04
- MetaLR 0.18
- MetaSVM -0.91
- CADD 15.20
- PolyPhen-2 0.03
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available