P49Q (p.Pro49Gln) variant of HNRNPA1 (P09651)
P49Q (p.Pro49Gln) in HNRNPA1 (P09651) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P49Q (p.Pro49Gln) variant details
- p.Pro49Gln
- gnomAD 12-54281808-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.80
- CADD 28.30
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available