D54N (p.Asp54Asn) variant of MED13L (Q71F56)
D54N (p.Asp54Asn) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
D54N (p.Asp54Asn) variant details
- p.Asp54Asn
- gnomAD rs1213926938
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.76
- ESM-1b 0.00
- AlphaMissense 0.87
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available