S43R (p.Ser43Arg) variant of MEFV (Pyrin)
S43R (p.Ser43Arg) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S43R (p.Ser43Arg) variant details
- p.Ser43Arg
- TOPMed rs1447799643
- gnomAD rs1447799643
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.14
- CADD 22.20
- PolyPhen-2 0.60
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available