P41R (p.Pro41Arg) variant of MEFV (Pyrin)
P41R (p.Pro41Arg) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P41R (p.Pro41Arg) variant details
- p.Pro41Arg
- Ensembl rs1596359900
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.51
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available