L53P (p.Leu53Pro) variant of GRN (Progranulin)
L53P (p.Leu53Pro) in GRN (Progranulin) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L53P (p.Leu53Pro) variant details
- p.Leu53Pro
- rs63750481
- ClinGen CA225215
- ClinVar RCV000084430
- Ensembl rs63750481
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.24
- CADD 20.70
- PolyPhen-2 0.55
- SIFT 0.17
- ClinVar: not provided (not provided)
- UniProt: Not provided
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available