N14S (p.Asn14Ser) variant of GNAS (P63092)
N14S (p.Asn14Ser) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N14S (p.Asn14Ser) variant details
- p.Asn14Ser
- rs752140999
- ClinGen CA9926874
- ClinVar RCV004531806
- ClinVar RCV005030358
- Uncertain significance
- Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudo
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.15
- CADD 19.40
- PolyPhen-2 0.03
- SIFT 0.69
- ClinVar: Uncertain significance (Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- Cited in: Fibrous Dysplasia / McCune-Albright Syndrome. (PMID 25719192)
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)