P13R (p.Pro13Arg) variant of SORL1 (Sortilin-related receptor)
P13R (p.Pro13Arg) in SORL1 (Sortilin-related receptor) is a missense change. 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.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- TOPMed rs1032527926
- gnomAD rs1032527926
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.15
- CADD 19.40
- PolyPhen-2 0.16
- SIFT 0.87
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available