R9P (p.Arg9Pro) variant of PDE6B (P35913)
R9P (p.Arg9Pro) in PDE6B (P35913) is a missense change. Clinical records from EBI and UniProt describe it as benign. 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.
R9P (p.Arg9Pro) variant details
- p.Arg9Pro
- 1000Genomes rs76755568
- ESP rs76755568
- ExAC rs76755568
- TOPMed rs76755568
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.16
- MetaLR 0.12
- MetaSVM -0.98
- CADD 16.40
- PolyPhen-2 0.06
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available