G21S (p.Gly21Ser) variant of ATP1A2 (P50993)
G21S (p.Gly21Ser) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- rs758613291
- ClinGen CA1194083
- ClinVar RCV001321305
- ExAC rs758613291
- Likely benign
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.29
- CADD 20.90
- PolyPhen-2 0.07
- SIFT 0.63
- ClinVar: Likely benign (Familial hemiplegic migraine)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)