R75W (p.Arg75Trp) variant of MEFV (Pyrin)
R75W (p.Arg75Trp) in MEFV (Pyrin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R75W (p.Arg75Trp) variant details
- p.Arg75Trp
- rs1042945356
- cosmic curated COSV10805
- NCI-TCGA Cosmic COSV5481
- TOPMed rs1042945356
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.20
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available