P2094S (p.Pro2094Ser) variant of MED13L (Q71F56)
P2094S (p.Pro2094Ser) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dextro-looped transposition of the great arteries; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
P2094S (p.Pro2094Ser) variant details
- p.Pro2094Ser
- rs1555240376
- ClinGen CA386874811
- ClinVar RCV003327896
- ClinVar RCV003603156
- Pathogenic/Likely pathogenic
- Dextro-looped transposition of the great arteries; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.80
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dextro-looped transposition of the great arteries; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available