D79V (p.Asp79Val) variant of MED13L (Q71F56)
D79V (p.Asp79Val) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D79V (p.Asp79Val) variant details
- p.Asp79Val
- TOPMed rs1231054017
- gnomAD rs1231054017
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 24.10
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available