P50A (p.Pro50Ala) variant of MEFV (Pyrin)
P50A (p.Pro50Ala) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P50A (p.Pro50Ala) variant details
- p.Pro50Ala
- rs1243710109
- ClinGen CA394484252
- ClinVar RCV003488025
- TOPMed rs1243710109
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.17
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available