T3N (p.Thr3Asn) variant of GRN (Progranulin)
T3N (p.Thr3Asn) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T3N (p.Thr3Asn) variant details
- p.Thr3Asn
- gnomAD 17-44349172-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.20
- CADD 15.70
- PolyPhen-2 0.38
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available