P83L (p.Pro83Leu) variant of ATP1A1 (P05023)
P83L (p.Pro83Leu) in ATP1A1 (P05023) 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 0.77 / 1. The record also includes population frequency data and structural context.
P83L (p.Pro83Leu) variant details
- p.Pro83Leu
- rs1346636921
- NCI-TCGA Cosmic COSV5519
- ClinGen CA341840977
- cosmic curated COSV55194
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.77
- MetaLR 0.71
- MetaSVM 0.58
- CADD 26.80
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.043)
- Structural context available