T5S (p.Thr5Ser) variant of PADI4 (Q9UM07)
T5S (p.Thr5Ser) in PADI4 (Q9UM07) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T5S (p.Thr5Ser) variant details
- p.Thr5Ser
- gnomAD 1-17308234-G-GTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.172
- CADD 12.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available