Q112H (p.Gln112His) variant of SLC25A20 (O43772)
Q112H (p.Gln112His) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q112H (p.Gln112His) variant details
- p.Gln112His
- rs765641042
- ClinGen CA2387416
- ClinVar RCV002799134
- ExAC rs765641042
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.53
- MetaLR 0.49
- MetaSVM -0.35
- CADD 17.30
- PolyPhen-2 0.16
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)