D48A (p.Asp48Ala) variant of HNRNPA1 (P09651)
D48A (p.Asp48Ala) in HNRNPA1 (P09651) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
D48A (p.Asp48Ala) variant details
- p.Asp48Ala
- gnomAD 12-54281805-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available