I42N (p.Ile42Asn) variant of PADI4 (Q9UM07)
I42N (p.Ile42Asn) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I42N (p.Ile42Asn) variant details
- p.Ile42Asn
- gnomAD 1-17331001-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.20
- CADD 24.60
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available