L47F (p.Leu47Phe) variant of PDE6B (P35913)
L47F (p.Leu47Phe) 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 0.17 / 1. The record also includes population frequency data and structural context.
L47F (p.Leu47Phe) variant details
- p.Leu47Phe
- rs1378109538
- ClinGen CA355906245
- ClinVar RCV001925787
- TOPMed rs1378109538
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.00
- CADD 3.28
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available