G53S (p.Gly53Ser) variant of KCNJ11 (Q14654)
G53S (p.Gly53Ser) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Transitory neonatal diabetes mellitus; Maturity-onset diabetes of the young; Typ. 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.
G53S (p.Gly53Ser) variant details
- p.Gly53Ser
- rs80356613
- ClinGen CA340809
- ClinVar RCV000009218
- ClinVar RCV002226644
- Conflicting interpretations
- Transitory neonatal diabetes mellitus; Maturity-onset diabetes of the young; Typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.79
- AlphaMissense 0.47
- MetaLR 0.83
- MetaSVM 0.53
- CADD 23.80
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Transitory neonatal diabetes mellitus; Maturity-onset diabetes o)
- EBI: Pathogenic (in TNDM3)
- UniProt: Pathogenic (in TNDM3)
- Population evidence available
- Structural context available
- Cited in: Relapsing diabetes can result from moderately activating mutations in KCNJ11. (PMID 15718250)
- Cited in: The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or… (PMID 15784703)