T9R (p.Thr9Arg) variant of ATP7B (Copper-transporting ATPase 2)
T9R (p.Thr9Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T9R (p.Thr9Arg) variant details
- p.Thr9Arg
- NCI-TCGA Cosmic COSV9966
- cosmic curated COSV99666
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available