S6S (p.Ser6Ser) variant of GRN (Progranulin)
S6S (p.Ser6Ser) in GRN (Progranulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S6S (p.Ser6Ser) variant details
- p.Ser6Ser
- rs768654819
- gnomAD 17-44349182-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.515
- AlphaMissense 0.77
- MetaLR 0.46
- MetaSVM -0.50
- CADD 13.70
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available