K12R (p.Lys12Arg) variant of HNRNPU (Q00839)
K12R (p.Lys12Arg) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- TOPMed rs1373869869
- gnomAD rs1373869869
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.44
- ESM-1b 0.42
- AlphaMissense 0.50
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.0299