I96V (p.Ile96Val) variant of HNRNPU (Q00839)
I96V (p.Ile96Val) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I96V (p.Ile96Val) variant details
- p.Ile96Val
- ExAC rs768543741
- gnomAD rs768543741
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.57
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available