D51Y (p.Asp51Tyr) variant of PADI4 (Q9UM07)
D51Y (p.Asp51Tyr) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D51Y (p.Asp51Tyr) variant details
- p.Asp51Tyr
- gnomAD 1-17331027-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.05
- CADD 0.22
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available