D22E (p.Asp22Glu) variant of PTEN (P60484)
D22E (p.Asp22Glu) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Macrocephaly-autism syndrome; not provided; Cowden syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes experimental measurements, published literature, and structural context.
D22E (p.Asp22Glu) variant details
- p.Asp22Glu
- rs786201335
- ClinGen CA377782017
- ClinVar RCV001807917
- ClinVar RCV003326159
- Uncertain significance
- Macrocephaly-autism syndrome; not provided; Cowden syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.89
- PolyPhen-2 0.30
- SIFT 0.01
- ClinVar: Uncertain significance (Macrocephaly-autism syndrome; not provided; Cowden syndrome 1)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- PTEN VAMP-seq Combined: score 0.901
- 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)