N67D (p.Asn67Asp) variant of MED13L (Q71F56)
N67D (p.Asn67Asp) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
N67D (p.Asn67Asp) variant details
- p.Asn67Asp
- rs2500016983
- ClinGen CA386927449
- ClinVar RCV003322077
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- ESM-1b 0.00
- AlphaMissense 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available