M121V (p.Met121Val) variant of HNRNPU (Q00839)
M121V (p.Met121Val) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
M121V (p.Met121Val) variant details
- p.Met121Val
- rs1388856266
- ClinGen CA345497299
- ClinVar RCV002563681
- gnomAD rs1388856266
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)