I61L (p.Ile61Leu) variant of CASR (P41180)
I61L (p.Ile61Leu) 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 0.39 / 1. The record also includes structural context.
I61L (p.Ile61Leu) variant details
- p.Ile61Leu
- rs2074531605
- ClinGen CA354362306
- ClinVar RCV001315221
- Ensembl rs2074531605
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.14
- MetaLR 0.42
- MetaSVM -0.44
- PolyPhen-2 0.03
- SIFT 0.69
- EVE 0.09
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available