K48T (p.Lys48Thr) variant of GRN (Progranulin)
K48T (p.Lys48Thr) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
K48T (p.Lys48Thr) variant details
- p.Lys48Thr
- gnomAD 17-44349629-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0941
- CADD 1.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available