A19D (p.Ala19Asp) variant of CASR (P41180)
A19D (p.Ala19Asp) 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, published literature, and structural context.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- gnomAD 3-122254245-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 21.40
- PolyPhen-2 0.37
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available