R9Q (p.Arg9Gln) variant of PDE6B (P35913)
R9Q (p.Arg9Gln) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- rs76755568
- ClinGen CA2793823
- ClinVar RCV000965664
- 1000Genomes rs76755568
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.09
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available