S10R (p.Ser10Arg) variant of PTEN (P60484)
S10R (p.Ser10Arg) 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 0.85 / 1. The record also includes experimental measurements and structural context.
S10R (p.Ser10Arg) variant details
- p.Ser10Arg
- rs1564801689
- Ensembl rs1564801689
- ClinGen CA377781876
- NCI-TCGA Cosmic COSV6430
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.89
- PolyPhen-2 0.36
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.574