I142M (p.Ile142Met) variant of MED13L (Q71F56)
I142M (p.Ile142Met) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I142M (p.Ile142Met) variant details
- p.Ile142Met
- Ensembl rs1872667116
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available