H46Q (p.His46Gln) variant of MTOR (P42345)
H46Q (p.His46Gln) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
H46Q (p.His46Gln) variant details
- p.His46Gln
- rs1326881059
- ClinGen CA338405163
- ClinVar RCV002609286
- ClinVar RCV002634711
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.24
- CADD 22.70
- PolyPhen-2 0.16
- SIFT 0.56
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-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)