A13T (p.Ala13Thr) variant of ATP1A2 (P50993)
A13T (p.Ala13Thr) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hemiplegic migraine; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- rs753074130
- ClinGen CA1194077
- ClinVar RCV000517434
- ClinVar RCV001364656
- Uncertain significance
- Familial hemiplegic migraine; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.23
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Familial hemiplegic migraine; Inborn genetic diseases; not speci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)