E56D (p.Glu56Asp) variant of CASR (P41180)
E56D (p.Glu56Asp) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- gnomAD rs1250155407
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 23.00
- PolyPhen-2 0.93
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available