A13V (p.Ala13Val) variant of PURA (Q00577)
A13V (p.Ala13Val) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs533257824
- ClinGen CA128789387
- ClinVar RCV003053503
- 1000Genomes rs533257824
- Uncertain significance
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.006)
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)