I7V (p.Ile7Val) variant of PADI4 (Q9UM07)
I7V (p.Ile7Val) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I7V (p.Ile7Val) variant details
- p.Ile7Val
- gnomAD 1-17308241-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.03
- CADD 8.15
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available