H36Y (p.His36Tyr) variant of SORL1 (Sortilin-related receptor)
H36Y (p.His36Tyr) 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 0.24 / 1. The record also includes population frequency data and structural context.
H36Y (p.His36Tyr) variant details
- p.His36Tyr
- rs2496712086
- ClinGen CA383283663
- NCI-TCGA Cosmic COSV9949
- ClinVar RCV004109495
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.21
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available