N20S (p.Asn20Ser) variant of MED13L (Q71F56)
N20S (p.Asn20Ser) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
N20S (p.Asn20Ser) variant details
- p.Asn20Ser
- rs1034459470
- ClinGen CA244936870
- ClinVar RCV003499786
- ClinVar RCV004636774
- Conflicting interpretations
- Dextro-looped transposition of the great arteries; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.45
- CADD 23.00
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Dextro-looped transposition of the great arteries; Inborn geneti)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.6e-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)