P73L (p.Pro73Leu) variant of ATP1A3 (P13637)
P73L (p.Pro73Leu) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- rs1161880070
- ClinGen CA406056658
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57485
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- CADD 27.50
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available