V105M (p.Val105Met) variant of MED13L (Q71F56)
V105M (p.Val105Met) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V105M (p.Val105Met) variant details
- p.Val105Met
- 1000Genomes rs548302905
- ExAC rs548302905
- TOPMed rs548302905
- gnomAD rs548302905
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 24.10
- PolyPhen-2 0.77
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available