M18V (p.Met18Val) variant of POLR1D (P0DPB6)
M18V (p.Met18Val) in POLR1D (P0DPB6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions, population frequency data, and structural context.
M18V (p.Met18Val) variant details
- p.Met18Val
- TOPMed rs1482213619
- gnomAD rs1482213619
- Uncertain significance
- Inborn genetic diseases
- Missense
- MetaLR 0.43
- MetaSVM -0.63
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available