T5A (p.Thr5Ala) variant of PADI4 (Q9UM07)
T5A (p.Thr5Ala) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- gnomAD 1-17308235-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0392
- REVEL 0.02
- CADD 2.47
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available