A44S (p.Ala44Ser) variant of PADI4 (Q9UM07)
A44S (p.Ala44Ser) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A44S (p.Ala44Ser) variant details
- p.Ala44Ser
- gnomAD 1-17331006-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.05
- CADD 8.25
- PolyPhen-2 0.37
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available