R20L (p.Arg20Leu) variant of PDE6B (P35913)
R20L (p.Arg20Leu) in PDE6B (P35913) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- cosmic curated COSV55330
- ExAC rs781251175
- TOPMed rs781251175
- gnomAD rs781251175
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.20
- MetaLR 0.08
- MetaSVM -1.11
- CADD 8.60
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available