A44T (p.Ala44Thr) variant of PADI4 (Q9UM07)
A44T (p.Ala44Thr) in PADI4 (Q9UM07) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- rs767499070
- ExAC rs767499070
- TOPMed rs767499070
- gnomAD rs767499070
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.03
- CADD 8.75
- PolyPhen-2 0.01
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available