D23N (p.Asp23Asn) variant of CASR (P41180)
D23N (p.Asp23Asn) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Nephrol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
D23N (p.Asp23Asn) variant details
- p.Asp23Asn
- rs2107624826
- ClinGen CA354362059
- NCI-TCGA Cosmic COSV5614
- cosmic curated COSV56140
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.07
- MetaLR 0.33
- MetaSVM -0.54
- PolyPhen-2 0.00
- SIFT 0.62
- MutPred 0.25
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available