N74M (p.Asn74Met) variant of MLC1 (Membrane protein MLC1)
N74M (p.Asn74Met) in MLC1 (Membrane protein MLC1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
N74M (p.Asn74Met) variant details
- p.Asn74Met
- gnomAD 2-210298460-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 33.00
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available