P60L (p.Pro60Leu) variant of GRN (Progranulin)
P60L (p.Pro60Leu) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P60L (p.Pro60Leu) variant details
- p.Pro60Leu
- gnomAD 17-44349466-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.08
- CADD 6.03
- PolyPhen-2 0.01
- SIFT 0.75
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available