D53V (p.Asp53Val) variant of MED13L (Q71F56)
D53V (p.Asp53Val) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D53V (p.Asp53Val) variant details
- p.Asp53Val
- gnomAD rs1403666758
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.81
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available