V8E (p.Val8Glu) variant of MED13L (Q71F56)
V8E (p.Val8Glu) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V8E (p.Val8Glu) variant details
- p.Val8Glu
- gnomAD rs1873932740
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.71
- CADD 22.90
- PolyPhen-2 0.15
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available