G2498S (p.Gly2498Ser) variant of ITPR2 (Q14571)
G2498S (p.Gly2498Ser) in ITPR2 (Q14571) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Isolated anhidrosis with normal sweat glands. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G2498S (p.Gly2498Ser) variant details
- p.Gly2498Ser
- rs786204832
- ClinGen CA199213
- ClinVar RCV000169736
- UniProt VAR 073688
- Pathogenic
- Isolated anhidrosis with normal sweat glands
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.82
- CADD 23.80
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Pathogenic (Isolated anhidrosis with normal sweat glands)
- EBI: Pathogenic (in ANHD)
- UniProt: Pathogenic (in ANHD)
- Population evidence available
- Structural context available
- Cited in: Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. (PMID 25329695)