S5R (p.Ser5Arg) variant of SORL1 (Sortilin-related receptor)
S5R (p.Ser5Arg) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- rs1452684273
- ClinGen CA383283478
- ClinVar RCV004457439
- TOPMed rs1452684273
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.33
- CADD 23.50
- PolyPhen-2 0.28
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available