P18L (p.Pro18Leu) variant of POLG (DNA polymerase subunit gamma-1)
P18L (p.Pro18Leu) 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 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.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- rs1394515933
- ClinGen CA393775096
- ClinVar RCV001991076
- gnomAD rs1394515933
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.16
- CADD 7.30
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance (in dbSNP:rs3087373)
- UniProt: Uncertain significance (in dbSNP:rs3087373)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)