G82D (p.Gly82Asp) variant of HNRNPU (Q00839)
G82D (p.Gly82Asp) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G82D (p.Gly82Asp) variant details
- p.Gly82Asp
- gnomAD rs1302622066
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available