D36D (p.Asp36Asp) variant of MLC1 (Membrane protein MLC1)
D36D (p.Asp36Asp) in MLC1 (Membrane protein MLC1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
D36D (p.Asp36Asp) variant details
- p.Asp36Asp
- gnomAD 2-210302489-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 14.20
- Population evidence available
- Structural context available
- Literature evidence available