N128S (p.Asn128Ser) variant of MED13L (Q71F56)
N128S (p.Asn128Ser) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
N128S (p.Asn128Ser) variant details
- p.Asn128Ser
- ExAC rs764174553
- TOPMed rs764174553
- gnomAD rs764174553
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.49
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available