L9V (p.Leu9Val) variant of STK11 (Q15831)
L9V (p.Leu9Val) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Carcinoma of pancreas; Peutz-Jeghers sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- rs876661079
- ClinGen CA10577590
- ClinVar RCV000221102
- ClinVar RCV001016064
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Carcinoma of pancreas; Peutz-Jeghers sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -0.95
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Carcinoma of pancreas;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)