V50V (p.Val50Val) variant of PADI4 (Q9UM07)
V50V (p.Val50Val) in PADI4 (Q9UM07) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V50V (p.Val50Val) variant details
- p.Val50Val
- gnomAD 1-17331026-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.31
- CADD 0.54
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available