A16S (p.Ala16Ser) variant of GRN (Progranulin)
A16S (p.Ala16Ser) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD rs1482233397
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.19
- CADD 15.90
- PolyPhen-2 0.34
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available