N217S (p.Asn217Ser) variant of MED13L (Q71F56)
N217S (p.Asn217Ser) in MED13L (Q71F56) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
N217S (p.Asn217Ser) variant details
- p.Asn217Ser
- ExAC rs772021396
- TOPMed rs772021396
- gnomAD rs772021396
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 19.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available