V18L (p.Val18Leu) variant of PADI4 (Q9UM07)
V18L (p.Val18Leu) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- gnomAD 1-17308274-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.26
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available