M17C (p.Met17Cys) variant of SLC30A8 (Q8IWU4)
M17C (p.Met17Cys) in SLC30A8 (Q8IWU4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
M17C (p.Met17Cys) variant details
- p.Met17Cys
- rs760522749
- gnomAD 8-117135375-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 25.90
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Literature evidence available