D153V (p.Asp153Val) variant of MED13L (Q71F56)
D153V (p.Asp153Val) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D153V (p.Asp153Val) variant details
- p.Asp153Val
- gnomAD rs1565875357
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available