M22V (p.Met22Val) variant of STK11 (Q15831)
M22V (p.Met22Val) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malignant, suscepti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
M22V (p.Met22Val) variant details
- p.Met22Val
- rs1174992777
- ClinGen CA402943405
- ClinVar RCV001025339
- ClinVar RCV001044306
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malignant, suscepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.40
- MetaLR 0.49
- MetaSVM -0.38
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Melanoma, cutaneous mal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)