L21C (p.Leu21Cys) variant of PADI4 (Q9UM07)
L21C (p.Leu21Cys) in PADI4 (Q9UM07) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L21C (p.Leu21Cys) variant details
- p.Leu21Cys
- gnomAD 1-17308273-C-CGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 24.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available