N93S (p.Asn93Ser) variant of MED13L (Q71F56)
N93S (p.Asn93Ser) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N93S (p.Asn93Ser) variant details
- p.Asn93Ser
- rs758996097
- ClinGen CA6811795
- ClinVar RCV003843983
- ClinVar RCV006373088
- Likely benign
- Inborn genetic diseases; Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.50
- PolyPhen-2 0.89
- SIFT 0.28
- ClinVar: Likely benign (Inborn genetic diseases; Dextro-looped transposition of the grea)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)