P21A (p.Pro21Ala) variant of GRN (Progranulin)
P21A (p.Pro21Ala) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P21A (p.Pro21Ala) variant details
- p.Pro21Ala
- ExAC rs781295861
- gnomAD rs781295861
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.60
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available