R14G (p.Arg14Gly) variant of PTEN (P60484)
R14G (p.Arg14Gly) in PTEN (P60484) 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 0.86 / 1. The record also includes experimental measurements, published literature, and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- rs1085308047
- ClinGen CA377781914
- ClinVar RCV000490585
- ClinVar RCV000492940
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.41
- 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)