P120R (p.Pro120Arg) variant of HNRNPU (Q00839)
P120R (p.Pro120Arg) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P120R (p.Pro120Arg) variant details
- p.Pro120Arg
- rs1455165658
- ClinGen CA345497301
- cosmic curated COSV51690
- ClinVar RCV002544615
- Benign
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 18.30
- PolyPhen-2 0.08
- SIFT 0.40
- ClinVar: Benign (Developmental and epileptic encephalopathy, 54)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)