M33V (p.Met33Val) variant of ATP7B (Copper-transporting ATPase 2)
M33V (p.Met33Val) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
M33V (p.Met33Val) variant details
- p.Met33Val
- TOPMed rs1952042768
- gnomAD rs1952042768
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 19.40
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available