T277K (p.Thr277Lys) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
T277K (p.Thr277Lys) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cowden syndrome 1; PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T277K (p.Thr277Lys) variant details
- p.Thr277Lys
- rs398123329
- ClinGen CA000600
- ClinVar RCV000078629
- ClinVar RCV002513823
- Uncertain significance
- not provided; Cowden syndrome 1; PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.98
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cowden syndrome 1; PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.123
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)