L35R (p.Leu35Arg) variant of SORL1 (Sortilin-related receptor)
L35R (p.Leu35Arg) in SORL1 (Sortilin-related receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L35R (p.Leu35Arg) variant details
- p.Leu35Arg
- rs755601132
- ClinGen CA6328280
- ClinVar RCV002613225
- ExAC rs755601132
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.24
- CADD 24.30
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available