A127V (p.Ala127Val) variant of ATP1A3 (P13637)
A127V (p.Ala127Val) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy 99. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A127V (p.Ala127Val) variant details
- p.Ala127Val
- rs2075284959
- ClinGen CA406055593
- NCI-TCGA Cosmic COSV5749
- cosmic curated COSV57491
- Likely pathogenic
- Developmental and epileptic encephalopathy 99
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 20.70
- PolyPhen-2 0.49
- SIFT 0.43
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy 99)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available