G49R (p.Gly49Arg) variant of HNRNPU (Q00839)
G49R (p.Gly49Arg) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G49R (p.Gly49Arg) variant details
- p.Gly49Arg
- ExAC rs775281977
- gnomAD rs775281977
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.29
- CADD 23.80
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available