N74K (p.Asn74Lys) variant of MLC1 (Membrane protein MLC1)
N74K (p.Asn74Lys) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
N74K (p.Asn74Lys) variant details
- p.Asn74Lys
- ExAC rs759148867
- TOPMed rs759148867
- gnomAD rs759148867
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.89
- MetaLR 0.20
- MetaSVM -0.80
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available