A78T (p.Ala78Thr) variant of HNRNPU (Q00839)
A78T (p.Ala78Thr) 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.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- Ensembl rs1558190755
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available