V107A (p.Val107Ala) variant of ATP7B (Copper-transporting ATPase 2)
V107A (p.Val107Ala) 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 0.30 / 1. The record also includes population frequency data and structural context.
V107A (p.Val107Ala) variant details
- p.Val107Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 19.20
- PolyPhen-2 0.14
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available