R69P (p.Arg69Pro) variant of HNRNPU (Q00839)
R69P (p.Arg69Pro) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Developmental and epileptic encephalopathy, 54; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R69P (p.Arg69Pro) variant details
- p.Arg69Pro
- rs754427497
- ClinGen CA1486848
- ClinVar RCV002416113
- ClinVar RCV002537562
- Benign/Likely benign
- Developmental and epileptic encephalopathy, 54; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.21
- ClinVar: Benign/Likely benign (Developmental and epileptic encephalopathy, 54; Inborn genetic d)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.9e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)