G19V (p.Gly19Val) variant of ATP1A2 (P50993)
G19V (p.Gly19Val) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- rs757373744
- ClinGen CA313319
- ClinVar RCV000186802
- ClinVar RCV005089934
- Uncertain significance
- not provided; Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.25
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)