D130N (p.Asp130Asn) variant of HNRNPU (Q00839)
D130N (p.Asp130Asn) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D130N (p.Asp130Asn) variant details
- p.Asp130Asn
- gnomAD rs1428436177
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available