D220A (p.Asp220Ala) variant of ATP1A3 (P13637)
D220A (p.Asp220Ala) 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 0.47 / 1. The record also includes structural context.
D220A (p.Asp220Ala) variant details
- p.Asp220Ala
- rs2145978691
- ClinGen CA406054088
- ClinVar RCV001563270
- Ensembl rs2145978691
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.52
- MetaLR 0.55
- MetaSVM -0.04
- PolyPhen-2 0.01
- SIFT 0.02
- EVE 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in AHC2)
- UniProt: Uncertain significance (in AHC2)
- Structural context available