N12K (p.Asn12Lys) variant of PTEN (P60484)
N12K (p.Asn12Lys) in PTEN (P60484) 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 0.36 / 1. The record also includes experimental measurements, published literature, and structural context.
N12K (p.Asn12Lys) variant details
- p.Asn12Lys
- rs587781957
- ClinGen CA000420
- ClinVar RCV000130333
- Ensembl rs587781957
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- ESM-1b 0.00
- AlphaMissense 0.51
- MetaLR 0.62
- MetaSVM -0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Combined: score 0.435
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)