A58V (p.Ala58Val) variant of PADI4 (Q9UM07)
A58V (p.Ala58Val) in PADI4 (Q9UM07) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- ExAC rs780521824
- gnomAD rs780521824
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.02
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available