C30W (p.Cys30Trp) variant of PADI4 (Q9UM07)
C30W (p.Cys30Trp) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
C30W (p.Cys30Trp) variant details
- p.Cys30Trp
- gnomAD rs1301130261
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.07
- CADD 12.00
- PolyPhen-2 0.48
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available