S180N (p.Ser180Asn) variant of MED13L (Q71F56)
S180N (p.Ser180Asn) 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 0.60 / 1. The record also includes population frequency data and structural context.
S180N (p.Ser180Asn) variant details
- p.Ser180Asn
- TOPMed rs1216800188
- gnomAD rs1216800188
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.71
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available