N132S (p.Asn132Ser) variant of HNRNPU (Q00839)
N132S (p.Asn132Ser) in HNRNPU (Q00839) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N132S (p.Asn132Ser) variant details
- p.Asn132Ser
- rs1489255367
- NCI-TCGA Cosmic COSV9931
- cosmic curated COSV99310
- TOPMed rs1489255367
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 22.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available