R60C (p.Arg60Cys) variant of GNA11 (P29992)
R60C (p.Arg60Cys) in GNA11 (P29992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypocalcemia 2; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R60C (p.Arg60Cys) variant details
- p.Arg60Cys
- rs587777021
- ClinGen CA144607
- ClinVar RCV000054478
- ClinVar RCV001853077
- Pathogenic/Likely pathogenic
- Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypocalcemia 2; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.85
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypoc)
- EBI: Pathogenic (in HYPOC2)
- UniProt: Pathogenic (in HYPOC2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A rude awakening--the perioperative sleep apnea epidemic. (PMID 23782177)
- Cited in: Germline mutations affecting Gα11 in hypoparathyroidism. (PMID 23802536)