D136E (p.Asp136Glu) variant of MED13L (Q71F56)
D136E (p.Asp136Glu) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D136E (p.Asp136Glu) variant details
- p.Asp136Glu
- ExAC rs759312266
- gnomAD rs759312266
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 23.10
- PolyPhen-2 0.28
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available