L28V (p.Leu28Val) variant of MEFV (Pyrin)
L28V (p.Leu28Val) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L28V (p.Leu28Val) variant details
- p.Leu28Val
- ExAC rs757658888
- gnomAD rs757658888
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.54
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available