T23S (p.Thr23Ser) variant of PADI4 (Q9UM07)
T23S (p.Thr23Ser) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T23S (p.Thr23Ser) variant details
- p.Thr23Ser
- 1000Genomes rs567560287
- ExAC rs567560287
- TOPMed rs567560287
- gnomAD rs567560287
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.25
- CADD 22.60
- PolyPhen-2 0.98
- SIFT 0.11
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available