K1191N (p.Lys1191Asn) variant of POLG (DNA polymerase subunit gamma-1)
K1191N (p.Lys1191Asn) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mitochondrial disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K1191N (p.Lys1191Asn) variant details
- p.Lys1191Asn
- rs1085307741
- ClinGen CA10602282
- ClinVar RCV000489004
- ClinVar RCV000758421
- Likely pathogenic
- Mitochondrial disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.88
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mitochondrial disease)
- EBI: Pathogenic (in MTDPS4A)
- UniProt: Pathogenic (in MTDPS4A)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. (PMID 16621917)
- Cited in: POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. (PMID 15122711)