N158S (p.Asn158Ser) variant of MED13L (Q71F56)
N158S (p.Asn158Ser) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 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 and structural context.
N158S (p.Asn158Ser) variant details
- p.Asn158Ser
- rs781607336
- ClinGen CA6811672
- ClinVar RCV001898115
- ExAC rs781607336
- Uncertain significance
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.09
- ClinVar: Uncertain significance (Dextro-looped transposition of the great arteries)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available