G151S (p.Gly151Ser) variant of HNRNPU (Q00839)
G151S (p.Gly151Ser) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G151S (p.Gly151Ser) variant details
- p.Gly151Ser
- rs570495195
- ClinGen CA1486798
- ClinVar RCV002706404
- 1000Genomes rs570495195
- Benign
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Benign (Developmental and epileptic encephalopathy, 54)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)