C105R (p.Cys105Arg) variant of PTEN (P60484)
C105R (p.Cys105Arg) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cowden syndrome 1; Macrocephaly-autism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes experimental measurements and structural context.
C105R (p.Cys105Arg) variant details
- p.Cys105Arg
- rs1303165645
- ClinGen CA377482162
- NCI-TCGA Cosmic COSV6429
- Likely pathogenic
- Cowden syndrome 1; Macrocephaly-autism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cowden syndrome 1; Macrocephaly-autism syndrome)
- EBI: Likely pathogenic (in CWS1)
- UniProt: Likely pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Combined: score 0.191