K21R (p.Lys21Arg) variant of HNRNPU (Q00839)
K21R (p.Lys21Arg) 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 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K21R (p.Lys21Arg) variant details
- p.Lys21Arg
- rs755839601
- ClinGen CA1486873
- ClinVar RCV002544809
- ExAC rs755839601
- Benign
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 24.60
- PolyPhen-2 0.33
- SIFT 0.05
- ClinVar: Benign (Developmental and epileptic encephalopathy, 54)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00056)
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.398
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)