T24A (p.Thr24Ala) variant of STK11 (Q15831)
T24A (p.Thr24Ala) 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 0.46 / 1. The record also includes published literature and structural context.
T24A (p.Thr24Ala) variant details
- p.Thr24Ala
- rs2145404724
- ClinGen CA402943482
- ClinVar RCV001371939
- Ensembl rs2145404724
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- AlphaMissense 0.13
- MetaLR 0.58
- MetaSVM 0.00
- PolyPhen-2 0.76
- SIFT 0.14
- EVE 0.13
- 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)