P104L (p.Pro104Leu) variant of ATP7B (Copper-transporting ATPase 2)
P104L (p.Pro104Leu) 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 0.63 / 1. The record also includes population frequency data and structural context.
P104L (p.Pro104Leu) variant details
- p.Pro104Leu
- rs1252338037
- NCI-TCGA Cosmic COSV5443
- cosmic curated COSV54437
- gnomAD rs1252338037
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 24.30
- PolyPhen-2 0.88
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available