F40L (p.Phe40Leu) variant of PADI4 (Q9UM07)
F40L (p.Phe40Leu) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
F40L (p.Phe40Leu) variant details
- p.Phe40Leu
- gnomAD 1-17330994-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.35
- CADD 24.50
- PolyPhen-2 0.82
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available