C19Y (p.Cys19Tyr) variant of PADI4 (Q9UM07)
C19Y (p.Cys19Tyr) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
C19Y (p.Cys19Tyr) variant details
- p.Cys19Tyr
- gnomAD 1-17308278-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.34
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available