A5G (p.Ala5Gly) variant of MED13L (Q71F56)
A5G (p.Ala5Gly) 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.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- Ensembl rs2138617019
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- ESM-1b 0.00
- AlphaMissense 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available