A113T (p.Ala113Thr) variant of HNRNPU (Q00839)
A113T (p.Ala113Thr) 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.
A113T (p.Ala113Thr) variant details
- p.Ala113Thr
- TOPMed rs1347499063
- gnomAD rs1347499063
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.56
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available