A58D (p.Ala58Asp) variant of PADI4 (Q9UM07)
A58D (p.Ala58Asp) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A58D (p.Ala58Asp) variant details
- p.Ala58Asp
- ExAC rs780521824
- gnomAD rs780521824
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.06
- CADD 18.10
- PolyPhen-2 0.64
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available