R65L (p.Arg65Leu) variant of ATP1A2 (P50993)
R65L (p.Arg65Leu) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy 98; Inborn genetic diseases; Familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R65L (p.Arg65Leu) variant details
- p.Arg65Leu
- rs187733403
- ClinGen CA245145
- cosmic curated COSV63404
- ClinVar RCV000333542
- Conflicting interpretations
- Developmental and epileptic encephalopathy 98; Inborn genetic diseases; Familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.60
- CADD 22.40
- PolyPhen-2 0.07
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy 98; Inborn genetic di)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:TUJIA population (allele frequency 0.1)
- 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)