V140L (p.Val140Leu) variant of MED13L (Q71F56)
V140L (p.Val140Leu) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V140L (p.Val140Leu) variant details
- p.Val140Leu
- 1000Genomes rs137898753
- ESP rs137898753
- ExAC rs137898753
- TOPMed rs137898753
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.61
- ESM-1b 0.39
- AlphaMissense 0.32
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available