V3M (p.Val3Met) variant of STK11 (Q15831)
V3M (p.Val3Met) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malig. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V3M (p.Val3Met) variant details
- p.Val3Met
- rs906049559
- ClinGen CA16620743
- ClinVar RCV000483652
- ClinVar RCV000632816
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malig
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.05
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -1.06
- CADD 23.50
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Melanoma,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)