C37S (p.Cys37Ser) variant of PADI4 (Q9UM07)
C37S (p.Cys37Ser) 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.
C37S (p.Cys37Ser) variant details
- p.Cys37Ser
- gnomAD 1-17330985-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.06
- CADD 18.10
- PolyPhen-2 0.02
- SIFT 0.33
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available