I42V (p.Ile42Val) variant of PADI4 (Q9UM07)
I42V (p.Ile42Val) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- TOPMed rs1371117096
- gnomAD rs1371117096
- Missense
- Variant Prioritization Score for Impact Estimate 0.0505
- REVEL 0.02
- CADD 1.38
- PolyPhen-2 0.05
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00024)
- Structural context available