A26P (p.Ala26Pro) variant of SORL1 (Sortilin-related receptor)
A26P (p.Ala26Pro) 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 0.47 / 1. The record also includes population frequency data and structural context.
A26P (p.Ala26Pro) variant details
- p.Ala26Pro
- rs751412092
- ClinGen CA6328276
- ClinVar RCV003561602
- ExAC rs751412092
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.41
- CADD 23.90
- PolyPhen-2 0.50
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available