L40P (p.Leu40Pro) variant of HNRNPA1 (P09651)
L40P (p.Leu40Pro) in HNRNPA1 (P09651) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L40P (p.Leu40Pro) variant details
- p.Leu40Pro
- gnomAD 12-54281489-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available