R69S (p.Arg69Ser) variant of HNRNPU (Q00839)
R69S (p.Arg69Ser) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R69S (p.Arg69Ser) variant details
- p.Arg69Ser
- TOPMed rs1680935140
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available