A45V (p.Ala45Val) variant of CASR (P41180)
A45V (p.Ala45Val) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- rs779995504
- ClinGen CA354362202
- ClinVar RCV001222412
- ExAC rs779995504
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- AlphaMissense 0.21
- MetaLR 0.56
- MetaSVM 0.07
- PolyPhen-2 0.62
- SIFT 0.17
- EVE 0.12
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available