C30F (p.Cys30Phe) variant of PADI4 (Q9UM07)
C30F (p.Cys30Phe) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
C30F (p.Cys30Phe) variant details
- p.Cys30Phe
- gnomAD 1-17308311-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0358
- REVEL 0.01
- CADD 1.27
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available