K50K (p.Lys50Lys) variant of MLC1 (Membrane protein MLC1)
K50K (p.Lys50Lys) in MLC1 (Membrane protein MLC1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K50K (p.Lys50Lys) variant details
- p.Lys50Lys
- gnomAD 2-210298517-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 12.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available