A12V (p.Ala12Val) variant of POLG (DNA polymerase subunit gamma-1)
A12V (p.Ala12Val) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs1438282314
- ClinGen CA393775261
- ClinVar RCV003194759
- ClinVar RCV003779701
- Uncertain significance
- Progressive sclerosing poliodystrophy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.11
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)