Y10C (p.Tyr10Cys) variant of ATP1A1 (P05023)
Y10C (p.Tyr10Cys) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar 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 0.61 / 1. The record also includes population frequency data and structural context.
Y10C (p.Tyr10Cys) variant details
- p.Tyr10Cys
- gnomAD rs1651912051
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.51
- MetaLR 0.79
- MetaSVM 0.81
- CADD 28.60
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available