S5L (p.Ser5Leu) variant of APC (Adenomatous polyposis coli protein)
S5L (p.Ser5Leu) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S5L (p.Ser5Leu) variant details
- p.Ser5Leu
- rs373718658
- ClinGen CA028004
- cosmic curated COSV10875
- ClinVar RCV000589294
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.93
- MetaLR 0.15
- MetaSVM -0.88
- CADD 27.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)