H33L (p.His33Leu) variant of APC (Adenomatous polyposis coli protein)
H33L (p.His33Leu) in APC (Adenomatous polyposis coli protein) 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 0.23 / 1. The record also includes structural context.
H33L (p.His33Leu) variant details
- p.His33Leu
- rs2149738409
- ClinGen CA16021556
- ClinVar RCV003321023
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- ESM-1b 0.00
- AlphaMissense 0.87
- MetaLR 0.12
- MetaSVM -0.95
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available