D51V (p.Asp51Val) variant of PADI4 (Q9UM07)
D51V (p.Asp51Val) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D51V (p.Asp51Val) variant details
- p.Asp51Val
- TOPMed rs1236437368
- gnomAD rs1236437368
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.10
- CADD 10.70
- PolyPhen-2 0.34
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available