E9D (p.Glu9Asp) variant of HNRNPA1 (P09651)
E9D (p.Glu9Asp) in HNRNPA1 (P09651) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- gnomAD 12-54281397-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.27
- CADD 23.20
- PolyPhen-2 0.28
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available