K66E (p.Lys66Glu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
K66E (p.Lys66Glu) 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 PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K66E (p.Lys66Glu) variant details
- p.Lys66Glu
- rs1554897271
- ClinGen CA377785048
- NCI-TCGA Cosmic COSV6429
- NCI-TCGA Cosmic COSV6431
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.91
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.36