G218R (p.Gly218Arg) variant of MED13L (Q71F56)
G218R (p.Gly218Arg) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes population frequency data and structural context.
G218R (p.Gly218Arg) variant details
- p.Gly218Arg
- rs546865056
- ClinGen CA244127702
- ClinVar RCV003227206
- 1000Genomes rs546865056
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available