V8L (p.Val8Leu) variant of MED13L (Q71F56)
V8L (p.Val8Leu) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- gnomAD rs1381012946
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.76
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available