K204R (p.Lys204Arg) variant of OPA1 (O60313)
K204R (p.Lys204Arg) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type); not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K204R (p.Lys204Arg) variant details
- p.Lys204Arg
- rs1729522355
- ClinGen CA355788325
- ClinVar RCV002010258
- TOPMed rs1729522355
- Uncertain significance
- Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type); not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- AlphaMissense 0.07
- MetaLR 0.23
- MetaSVM -0.66
- PolyPhen-2 0.00
- SIFT 0.33
- EVE 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available