L81P (p.Leu81Pro) variant of MEFV (Pyrin)
L81P (p.Leu81Pro) in MEFV (Pyrin) is a missense change. 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.
L81P (p.Leu81Pro) variant details
- p.Leu81Pro
- gnomAD rs1472154255
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.16
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available