A45G (p.Ala45Gly) variant of CASR (P41180)
A45G (p.Ala45Gly) in CASR (P41180) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A45G (p.Ala45Gly) variant details
- p.Ala45Gly
- ExAC rs779995504
- gnomAD rs779995504
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.21
- MetaLR 0.56
- MetaSVM 0.07
- CADD 22.20
- PolyPhen-2 0.62
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available