A80V (p.Ala80Val) variant of HNRNPU (Q00839)
A80V (p.Ala80Val) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A80V (p.Ala80Val) variant details
- p.Ala80Val
- gnomAD rs1225658657
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available