D83N (p.Asp83Asn) variant of HNRNPU (Q00839)
D83N (p.Asp83Asn) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D83N (p.Asp83Asn) variant details
- p.Asp83Asn
- gnomAD rs1403182602
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available