Y49D (p.Tyr49Asp) variant of STK11 (Q15831)
Y49D (p.Tyr49Asp) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Melanoma, cutaneous malignant, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
Y49D (p.Tyr49Asp) variant details
- p.Tyr49Asp
- rs137853080
- ClinGen CA022658
- cosmic curated COSV58822
- ClinVar RCV000007882
- Pathogenic
- Melanoma, cutaneous malignant, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Melanoma, cutaneous malignant, susceptibility to, 1)
- EBI: Pathogenic (in melanoma)
- UniProt: Pathogenic (in melanoma)
- Structural context available
- Cited in: Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas. (PMID 10201537)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)