R763L (p.Arg763Leu) variant of ATP1A2 (P50993)
R763L (p.Arg763Leu) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
R763L (p.Arg763Leu) variant details
- p.Arg763Leu
- rs1403515889
- ClinGen CA343249873
- ClinVar RCV003317984
- Likely pathogenic
- Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (Fetal akinesia, respiratory insufficiency, microcephaly, polymic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available