Y207C (p.Tyr207Cys) variant of PRKAR1A (P10644)
Y207C (p.Tyr207Cys) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acrodysostosis 1 with or without hormone resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
Y207C (p.Tyr207Cys) variant details
- p.Tyr207Cys
- rs1600486197
- ClinGen CA400753208
- ClinVar RCV000791348
- Ensembl rs1600486197
- Likely pathogenic
- Acrodysostosis 1 with or without hormone resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 0.91
- MetaLR 0.89
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Likely pathogenic (Acrodysostosis 1 with or without hormone resistance)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available