S20F (p.Ser20Phe) variant of ATP7B (Copper-transporting ATPase 2)
S20F (p.Ser20Phe) 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 0.64 / 1. The record also includes structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- NCI-TCGA Cosmic COSV9966
- cosmic curated COSV99666
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- ESM-1b 0.47
- AlphaMissense 0.14
- MetaLR 0.91
- MetaSVM 1.05
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available