L6W (p.Leu6Trp) variant of PADI4 (Q9UM07)
L6W (p.Leu6Trp) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L6W (p.Leu6Trp) variant details
- p.Leu6Trp
- gnomAD 1-17308239-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.04
- CADD 17.10
- PolyPhen-2 0.91
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available