P5R (p.Pro5Arg) variant of MEFV (Pyrin)
P5R (p.Pro5Arg) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acute febrile neutrophilic dermatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
P5R (p.Pro5Arg) variant details
- p.Pro5Arg
- rs775861390
- ClinGen CA7860554
- ClinVar RCV004547214
- ExAC rs775861390
- Uncertain significance
- Acute febrile neutrophilic dermatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.0561
- REVEL 0.06
- CADD 0.04
- PolyPhen-2 0.06
- SIFT 0.13
- ClinVar: Uncertain significance (Acute febrile neutrophilic dermatosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available