K50E (p.Lys50Glu) variant of MLC1 (Membrane protein MLC1)
K50E (p.Lys50Glu) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
K50E (p.Lys50Glu) variant details
- p.Lys50Glu
- rs758302123
- gnomAD 2-210298558-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.90
- ESM-1b 0.00
- AlphaMissense 0.34
- MetaLR 0.80
- MetaSVM 0.78
- CADD 29.80
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Literature evidence available