N20D (p.Asn20Asp) variant of MED13L (Q71F56)
N20D (p.Asn20Asp) 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.
N20D (p.Asn20Asp) variant details
- p.Asn20Asp
- TOPMed rs1873927885
- gnomAD rs1873927885
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.94
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available