R149H (p.Arg149His) variant of GNA11 (P29992)
R149H (p.Arg149His) 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 0.74 / 1. The record also includes population frequency data and structural context.
R149H (p.Arg149His) variant details
- p.Arg149His
- NCI-TCGA TCGA novel
- gnomAD rs1913828804
- Likely pathogenic
- Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypocalcemia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.76
- AlphaMissense 0.93
- MetaLR 0.72
- MetaSVM 0.64
- CADD 28.60
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypoc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available