T54M (p.Thr54Met) variant of GNA11 (P29992)
T54M (p.Thr54Met) in GNA11 (P29992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypocalcemia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T54M (p.Thr54Met) variant details
- p.Thr54Met
- rs1335558363
- ClinGen CA403305402
- ClinVar RCV001706737
- ClinVar RCV005014615
- Likely pathogenic
- Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypocalcemia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.97
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypoc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). (PMID 26729423)