R62G (p.Arg62Gly) variant of MED13L (Q71F56)
R62G (p.Arg62Gly) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R62G (p.Arg62Gly) variant details
- p.Arg62Gly
- Ensembl rs1308998041
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.90
- ESM-1b 0.00
- AlphaMissense 0.33
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available