I189L (p.Ile189Leu) variant of MED13L (Q71F56)
I189L (p.Ile189Leu) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
I189L (p.Ile189Leu) variant details
- p.Ile189Leu
- rs1477471791
- ClinGen CA386872248
- ClinVar RCV002900793
- ClinVar RCV005099797
- Uncertain significance
- Inborn genetic diseases; Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.80
- ClinVar: Uncertain significance (Inborn genetic diseases; Dextro-looped transposition of the grea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-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)