M53I (p.Met53Ile) variant of HNRNPU (Q00839)
M53I (p.Met53Ile) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
M53I (p.Met53Ile) variant details
- p.Met53Ile
- rs976496273
- ClinGen CA40505299
- ClinVar RCV002551031
- TOPMed rs976496273
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)