M199L (p.Met199Leu) variant of MED13L (Q71F56)
M199L (p.Met199Leu) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
M199L (p.Met199Leu) variant details
- p.Met199Leu
- gnomAD rs1346717465
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 19.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available