A127V (p.Ala127Val) variant of HNRNPU (Q00839)
A127V (p.Ala127Val) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A127V (p.Ala127Val) variant details
- p.Ala127Val
- rs776690627
- ClinGen CA1486809
- ClinVar RCV000515626
- ExAC rs776690627
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.20
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)