K50N (p.Lys50Asn) variant of MLC1 (Membrane protein MLC1)
K50N (p.Lys50Asn) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K50N (p.Lys50Asn) variant details
- p.Lys50Asn
- gnomAD 2-210298517-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.69
- MetaLR 0.46
- MetaSVM -0.10
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available