I29S (p.Ile29Ser) variant of PADI4 (Q9UM07)
I29S (p.Ile29Ser) in PADI4 (Q9UM07) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I29S (p.Ile29Ser) variant details
- p.Ile29Ser
- gnomAD 1-17308306-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 16.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available