L61del (p.Leu61del) variant of MLC1 (Membrane protein MLC1)
L61del (p.Leu61del) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L61del (p.Leu61del) variant details
- gnomAD 2-210298541-CAGG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 22.70
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available