L27R (p.Leu27Arg) variant of APC (Adenomatous polyposis coli protein)
L27R (p.Leu27Arg) in APC (Adenomatous polyposis coli protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L27R (p.Leu27Arg) variant details
- p.Leu27Arg
- gnomAD 5-112754970-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.48
- ESM-1b 0.05
- AlphaMissense 0.98
- MetaLR 0.16
- MetaSVM -0.84
- CADD 27.40
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available