H33R (p.His33Arg) variant of APC (Adenomatous polyposis coli protein)
H33R (p.His33Arg) in APC (Adenomatous polyposis coli protein) is a missense change. 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.
H33R (p.His33Arg) variant details
- p.His33Arg
- Ensembl rs2149738409
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.87
- MetaLR 0.12
- MetaSVM -0.95
- CADD 25.20
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available