Q15K (p.Gln15Lys) variant of OPA1 (O60313)
Q15K (p.Gln15Lys) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type); Aborti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q15K (p.Gln15Lys) variant details
- p.Gln15Lys
- rs75414918
- ClinGen CA285728
- cosmic curated COSV10065
- ClinVar RCV000081767
- Benign
- Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type); Aborti
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.22
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Benign (Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopath)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:LWK population (allele frequency 0.17)
- Structural context available
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)