Y9N (p.Tyr9Asn) variant of ATP1A2 (P50993)
Y9N (p.Tyr9Asn) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Fetal akinesia, respiratory insufficiency, microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Y9N (p.Tyr9Asn) variant details
- p.Tyr9Asn
- rs55858252
- ClinGen CA313264
- ClinVar RCV000186782
- ClinVar RCV000229197
- Conflicting interpretations
- Inborn genetic diseases; Fetal akinesia, respiratory insufficiency, microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.28
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Fetal akinesia, respiratory insufficien)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- 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)