C41S (p.Cys41Ser) variant of GRN (Progranulin)
C41S (p.Cys41Ser) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
C41S (p.Cys41Ser) variant details
- p.Cys41Ser
- gnomAD rs1190219145
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.61
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available