A21V (p.Ala21Val) variant of POLG (DNA polymerase subunit gamma-1)
A21V (p.Ala21Val) 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.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs796052893
- ClinGen CA316734
- ClinVar RCV002353954
- ClinVar RCV003098190
- Uncertain significance
- Progressive sclerosing poliodystrophy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.10
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- 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)