A46T (p.Ala46Thr) variant of CASR (P41180)
A46T (p.Ala46Thr) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- gnomAD rs1329833347
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 21.20
- PolyPhen-2 0.37
- SIFT 0.67
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available