S4L (p.Ser4Leu) variant of HNRNPU (Q00839)
S4L (p.Ser4Leu) 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 0.32 / 1. The record also includes population frequency data and structural context.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- NCI-TCGA Cosmic COSV5169
- cosmic curated COSV51694
- gnomAD rs1322316080
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.62
- CADD 24.80
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available