P21S (p.Pro21Ser) variant of GRN (Progranulin)
P21S (p.Pro21Ser) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- ExAC rs781295861
- gnomAD rs781295861
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.64
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available