R50C (p.Arg50Cys) variant of HNRNPU (Q00839)
R50C (p.Arg50Cys) in HNRNPU (Q00839) is a missense change. 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.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- ExAC rs773808446
- TOPMed rs773808446
- gnomAD rs773808446
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available