R11T (p.Arg11Thr) variant of ATP7B (Copper-transporting ATPase 2)
R11T (p.Arg11Thr) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R11T (p.Arg11Thr) variant details
- p.Arg11Thr
- gnomAD rs1397409149
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available