P39S (p.Pro39Ser) variant of CASR (P41180)
P39S (p.Pro39Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- rs121909262
- ClinGen CA82607564
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56133
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- AlphaMissense 0.94
- MetaLR 0.79
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.12
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available