V49A (p.Val49Ala) variant of PADI4 (Q9UM07)
V49A (p.Val49Ala) in PADI4 (Q9UM07) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V49A (p.Val49Ala) variant details
- p.Val49Ala
- gnomAD 1-17331021-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 9.43
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available