I32V (p.Ile32Val) variant of CASR (P41180)
I32V (p.Ile32Val) 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 0.52 / 1. The record also includes structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- rs2074529687
- ClinGen CA354362119
- ClinVar RCV001986789
- TOPMed rs2074529687
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.11
- MetaLR 0.71
- MetaSVM 0.32
- PolyPhen-2 0.98
- SIFT 0.56
- EVE 0.09
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available