N193S (p.Asn193Ser) variant of MED13L (Q71F56)
N193S (p.Asn193Ser) 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 0.26 / 1. The record also includes population frequency data and structural context.
N193S (p.Asn193Ser) variant details
- p.Asn193Ser
- rs531397958
- ClinGen CA6811640
- ClinVar RCV003603834
- 1000Genomes rs531397958
- Uncertain significance
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 12.60
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Dextro-looped transposition of the great arteries)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available