Y1234C (p.Tyr1234Cys) variant of MET (P08581)
Y1234C (p.Tyr1234Cys) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; risk factor in the context of Arthrogryposis, distal, type 1A; Arthrogryposis, distal, IIa 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y1234C (p.Tyr1234Cys) variant details
- p.Tyr1234Cys
- rs1554400286
- ClinGen CA368991650
- ClinVar RCV000626485
- ClinVar RCV002279723
- Pathogenic; risk factor
- Arthrogryposis, distal, type 1A; Arthrogryposis, distal, IIa 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.93
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic; risk factor (Arthrogryposis, distal, type 1A; Arthrogryposis, distal, IIa 11)
- EBI: Pathogenic (in DA11)
- UniProt: Pathogenic (in DA11)
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: MET mutation causes muscular dysplasia and arthrogryposis. (PMID 30777867)