M22I (p.Met22Ile) variant of STK11 (Q15831)
M22I (p.Met22Ile) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
M22I (p.Met22Ile) variant details
- p.Met22Ile
- rs1599914859
- Ensembl rs1599914859
- ClinGen CA402943433
- ClinVar RCV000801710
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.47
- MetaLR 0.53
- MetaSVM -0.25
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.07
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)