L121Q (p.Leu121Gln) variant of MED13L (Q71F56)
L121Q (p.Leu121Gln) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
L121Q (p.Leu121Gln) variant details
- p.Leu121Gln
- ExAC rs749836997
- gnomAD rs749836997
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available