A113S (p.Ala113Ser) variant of HNRNPU (Q00839)
A113S (p.Ala113Ser) 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.
A113S (p.Ala113Ser) variant details
- p.Ala113Ser
- TOPMed rs1347499063
- gnomAD rs1347499063
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 20.60
- PolyPhen-2 0.03
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available