P5S (p.Pro5Ser) variant of HNRNPU (Q00839)
P5S (p.Pro5Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs1680942062
- ClinGen CA345498532
- ClinVar RCV003757718
- TOPMed rs1680942062
- Likely benign
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 21.90
- PolyPhen-2 0.02
- SIFT 0.61
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 54)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)