K100N (p.Lys100Asn) variant of GNAS (P63092)
K100N (p.Lys100Asn) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pseudopseudohypoparathyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
K100N (p.Lys100Asn) variant details
- p.Lys100Asn
- rs1569015549
- ClinGen CA409450310
- ClinVar RCV000785915
- Ensembl rs1569015549
- Likely pathogenic
- Pseudopseudohypoparathyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.19
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.63
- ClinVar: Likely pathogenic (Pseudopseudohypoparathyroidism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)