L27F (p.Leu27Phe) variant of MED13L (Q71F56)
L27F (p.Leu27Phe) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dextro-looped transposition of the great arteries; not provided; Inborn genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L27F (p.Leu27Phe) variant details
- p.Leu27Phe
- rs1379524685
- ClinGen CA386927714
- ClinVar RCV003228370
- ClinVar RCV005102434
- Conflicting interpretations
- Dextro-looped transposition of the great arteries; not provided; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.96
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Dextro-looped transposition of the great arteries; not provided;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- 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)