P27S (p.Pro27Ser) variant of GRN (Progranulin)
P27S (p.Pro27Ser) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- gnomAD 17-44349243-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.32
- CADD 20.40
- PolyPhen-2 0.69
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available