A49T (p.Ala49Thr) variant of MED13L (Q71F56)
A49T (p.Ala49Thr) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- rs2500017127
- ClinGen CA386927571
- ClinVar RCV003328892
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- ESM-1b 0.00
- AlphaMissense 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available