R39S (p.Arg39Ser) variant of MEFV (Pyrin)
R39S (p.Arg39Ser) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R39S (p.Arg39Ser) variant details
- p.Arg39Ser
- rs1294852343
- NCI-TCGA Cosmic COSV5482
- gnomAD rs1294852343
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.15
- CADD 22.80
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available