L45V (p.Leu45Val) variant of GRN (Progranulin)
L45V (p.Leu45Val) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- gnomAD 17-44349297-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0707
- REVEL 0.07
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.85
- Population evidence available
- Structural context available
- Literature evidence available