E195D (p.Glu195Asp) variant of MED13L (Q71F56)
E195D (p.Glu195Asp) 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.
E195D (p.Glu195Asp) variant details
- p.Glu195Asp
- TOPMed rs1880119408
- gnomAD rs1880119408
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available