A13V (p.Ala13Val) variant of ATP1A2 (P50993)
A13V (p.Ala13Val) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs1651374712
- ClinGen CA343227100
- ClinVar RCV003063936
- ClinVar RCV005744591
- Uncertain significance
- Inborn genetic diseases; Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.20
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases; Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)