D117H (p.Asp117His) variant of HNRNPU (Q00839)
D117H (p.Asp117His) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D117H (p.Asp117His) variant details
- p.Asp117His
- ExAC rs767918101
- gnomAD rs767918101
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 23.80
- PolyPhen-2 0.11
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available