M69T (p.Met69Thr) variant of ATP7A (Copper-transporting ATPase 1)
M69T (p.Met69Thr) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
M69T (p.Met69Thr) variant details
- p.Met69Thr
- rs782186873
- gnomAD X-77974755-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 9.10
- Most common in the African/African-American population (allele frequency 0.00023)
- Structural context available
- Literature evidence available