N74Y (p.Asn74Tyr) variant of MLC1 (Membrane protein MLC1)
N74Y (p.Asn74Tyr) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
N74Y (p.Asn74Tyr) variant details
- p.Asn74Tyr
- rs777771898
- gnomAD 2-210298471-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.93
- ESM-1b 0.00
- AlphaMissense 0.50
- MetaLR 0.88
- MetaSVM 1.01
- CADD 29.60
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available