M11V (p.Met11Val) variant of STK11 (Q15831)
M11V (p.Met11Val) 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; Melanoma, cutaneous malignant, susceptibility to, 1; Hereditary ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
M11V (p.Met11Val) variant details
- p.Met11Val
- rs753834428
- ClinGen CA047107
- ClinVar RCV000222194
- ClinVar RCV000232648
- Uncertain significance
- not provided; Melanoma, cutaneous malignant, susceptibility to, 1; Hereditary ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.08
- MetaLR 0.12
- MetaSVM -1.02
- CADD 9.24
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not provided; Melanoma, cutaneous malignant, susceptibility to,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)