Q201H (p.Gln201His) variant of MED13L (Q71F56)
Q201H (p.Gln201His) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes published literature and structural context.
Q201H (p.Gln201His) variant details
- p.Gln201His
- rs1880117720
- ClinGen CA386872155
- ClinVar RCV001036208
- ClinVar RCV005660015
- Conflicting interpretations
- Inborn genetic diseases; Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- ESM-1b 0.00
- AlphaMissense 0.32
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Dextro-looped transposition of the grea)
- EBI: Likely benign
- UniProt: Likely benign
- 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)