L15V (p.Leu15Val) variant of PURA (Q00577)
L15V (p.Leu15Val) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- rs923665124
- ClinGen CA128789389
- ClinVar RCV002304078
- TOPMed rs923665124
- Uncertain significance
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)