M1V (p.Met1Val) variant of PURA (Q00577)
M1V (p.Met1Val) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; PURA-related severe neonatal hypotonia-seizures-encephalopathy syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs793888530
- ClinGen CA361488922
- ClinVar RCV000579099
- ClinVar RCV001783082
- Pathogenic/Likely pathogenic
- not provided; PURA-related severe neonatal hypotonia-seizures-encephalopathy syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.09
- MetaSVM -0.98
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; PURA-related severe neonatal hypotonia-seizures-en)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)