M89I (p.Met89Ile) variant of ATP7B (Copper-transporting ATPase 2)
M89I (p.Met89Ile) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
M89I (p.Met89Ile) variant details
- p.Met89Ile
- gnomAD rs1164807938
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available