L16V (p.Leu16Val) variant of APC (Adenomatous polyposis coli protein)
L16V (p.Leu16Val) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- rs1057520603
- ClinGen CA16021440
- ClinVar RCV004564854
- gnomAD rs1057520603
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- ESM-1b 0.98
- AlphaMissense 0.96
- MetaLR 0.12
- MetaSVM -0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)