K8N (p.Lys8Asn) variant of POLG (DNA polymerase subunit gamma-1)
K8N (p.Lys8Asn) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K8N (p.Lys8Asn) variant details
- p.Lys8Asn
- rs886044323
- ClinGen CA10602224
- ClinVar RCV000260803
- ClinVar RCV003765675
- Uncertain significance
- not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.13
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)