H16R (p.His16Arg) variant of PADI4 (Q9UM07)
H16R (p.His16Arg) in PADI4 (Q9UM07) is a missense change. Clinical records from ClinVar, EBI, 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 0.16 / 1. The record also includes population frequency data and structural context.
H16R (p.His16Arg) variant details
- p.His16Arg
- rs370820749
- ESP rs370820749
- ExAC rs370820749
- TOPMed rs370820749
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.03
- CADD 5.49
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- Structural context available