D49H (p.Asp49His) variant of ATP1A1 (P05023)
D49H (p.Asp49His) 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 0.68 / 1. The record also includes population frequency data and structural context.
D49H (p.Asp49His) variant details
- p.Asp49His
- rs778261406
- ClinGen CA1025030
- ClinVar RCV003551064
- ExAC rs778261406
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.69
- AlphaMissense 0.30
- MetaLR 0.51
- MetaSVM 0.15
- CADD 27.90
- PolyPhen-2 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 9.9e-05)
- Structural context available