M11I (p.Met11Ile) variant of STK11 (Q15831)
M11I (p.Met11Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
M11I (p.Met11Ile) variant details
- p.Met11Ile
- rs757411357
- ClinGen CA047149
- ClinVar RCV000217440
- ClinVar RCV001808579
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.04
- MetaLR 0.16
- MetaSVM -0.96
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Peutz-Jeghers Syndrome. (PMID 20301443)