S31F (p.Ser31Phe) variant of STK11 (Q15831)
S31F (p.Ser31Phe) 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 0.77 / 1. The record also includes published literature and structural context.
S31F (p.Ser31Phe) variant details
- p.Ser31Phe
- rs2145404849
- ClinVar RCV004573677
- ClinVar RCV006292541
- Ensembl rs2145404849
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malignant, suscepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 0.95
- MetaLR 0.76
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Melanoma, cutaneous mal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)