S97C (p.Ser97Cys) variant of HNRNPU (Q00839)
S97C (p.Ser97Cys) in HNRNPU (Q00839) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S97C (p.Ser97Cys) variant details
- p.Ser97Cys
- gnomAD rs1479183749
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available