G43A (p.Gly43Ala) variant of CASR (P41180)
G43A (p.Gly43Ala) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G43A (p.Gly43Ala) variant details
- p.Gly43Ala
- gnomAD 3-122254317-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 23.40
- PolyPhen-2 0.95
- SIFT 0.82
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available