Q38* (p.Gln38Ter) variant of MLC1 (Membrane protein MLC1)
Q38* (p.Gln38Ter) in MLC1 (Membrane protein MLC1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Q38* (p.Gln38Ter) variant details
- p.Gln38Ter
- rs867165223
- gnomAD 2-210302494-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 45.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available