K28R (p.Lys28Arg) variant of HNRNPU (Q00839)
K28R (p.Lys28Arg) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Developmental and epileptic encephalopathy, 54; Inborn genetic diseases; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K28R (p.Lys28Arg) variant details
- p.Lys28Arg
- rs200952460
- ClinGen CA1486870
- cosmic curated COSV99310
- ClinVar RCV002438240
- Likely benign
- Developmental and epileptic encephalopathy, 54; Inborn genetic diseases; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.90
- PolyPhen-2 0.17
- SIFT 0.30
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 54; Inborn genetic d)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.291
- 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)