T5H (p.Thr5His) variant of PADI4 (Q9UM07)
T5H (p.Thr5His) in PADI4 (Q9UM07) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T5H (p.Thr5His) variant details
- p.Thr5His
- gnomAD 1-17308230-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 22.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available