L220P (p.Leu220Pro) variant of MED13L (Q71F56)
L220P (p.Leu220Pro) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L220P (p.Leu220Pro) variant details
- p.Leu220Pro
- gnomAD rs1394205144
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available