V1106A (p.Val1106Ala) variant of POLG (DNA polymerase subunit gamma-1)
V1106A (p.Val1106Ala) 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 DNA depletion syndrome; Inborn genetic diseases; Sensory ataxic ne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V1106A (p.Val1106Ala) variant details
- p.Val1106Ala
- rs1354582663
- ClinGen CA393750042
- ClinVar RCV000623937
- ClinVar RCV000765236
- Likely pathogenic
- Mitochondrial DNA depletion syndrome; Inborn genetic diseases; Sensory ataxic ne
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.86
- CADD 23.60
- PolyPhen-2 0.31
- SIFT 0.05
- ClinVar: Likely pathogenic (Mitochondrial DNA depletion syndrome; Inborn genetic diseases; S)
- EBI: Likely pathogenic (in PEOB1)
- UniProt: Likely pathogenic (in PEOB1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)