M86T (p.Met86Thr) variant of YAP1 (Transcriptional coactivator YAP1)
M86T (p.Met86Thr) in YAP1 (Transcriptional coactivator YAP1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Uveal coloboma-cleft lip and palate-intellectual disability. The record also includes structural context.
M86T (p.Met86Thr) variant details
- p.Met86Thr
- rs2135086778
- ClinGen CA382490955
- ClinVar RCV002246820
- Ensembl rs2135086778
- Pathogenic
- Uveal coloboma-cleft lip and palate-intellectual disability
- Missense
- ClinVar: Pathogenic (Uveal coloboma-cleft lip and palate-intellectual disability)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available