V5V (p.Val5Val) variant of GRN (Progranulin)
V5V (p.Val5Val) in GRN (Progranulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V5V (p.Val5Val) variant details
- p.Val5Val
- rs762647010
- gnomAD 17-44349179-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 10.30
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available