P57A (p.Pro57Ala) variant of PADI4 (Q9UM07)
P57A (p.Pro57Ala) 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 0.33 / 1. The record also includes population frequency data and structural context.
P57A (p.Pro57Ala) variant details
- p.Pro57Ala
- TOPMed rs868374114
- gnomAD rs868374114
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.13
- CADD 15.80
- PolyPhen-2 0.97
- SIFT 0.42
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available