A16T (p.Ala16Thr) variant of ATP1A2 (P50993)
A16T (p.Ala16Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- rs754418656
- ClinGen CA1194080
- ClinVar RCV003118694
- ExAC rs754418656
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.17
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)