A80T (p.Ala80Thr) variant of HNRNPU (Q00839)
A80T (p.Ala80Thr) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A80T (p.Ala80Thr) variant details
- p.Ala80Thr
- ExAC rs762361480
- gnomAD rs762361480
- Missense
- Variant Prioritization Score for Impact Estimate 0.0936
- REVEL 0.02
- ESM-1b 0.08
- AlphaMissense 0.08
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available