M1I (p.Met1Ile) variant of PDE6B (P35913)
M1I (p.Met1Ile) 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 record also includes population frequency data and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1734048235
- ClinGen CA355905793
- ClinVar RCV001201412
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available