S81F (p.Ser81Phe) variant of ATP7B (Copper-transporting ATPase 2)
S81F (p.Ser81Phe) 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 0.54 / 1. The record also includes population frequency data and structural context.
S81F (p.Ser81Phe) variant details
- p.Ser81Phe
- NCI-TCGA Cosmic COSV5443
- cosmic curated COSV54439
- gnomAD rs1952033915
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 23.00
- PolyPhen-2 0.94
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available