L220V (p.Leu220Val) variant of MED13L (Q71F56)
L220V (p.Leu220Val) in MED13L (Q71F56) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L220V (p.Leu220Val) variant details
- p.Leu220Val
- ExAC rs778691635
- TOPMed rs778691635
- gnomAD rs778691635
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available