D48D (p.Asp48Asp) variant of CASR (P41180)
D48D (p.Asp48Asp) in CASR (P41180) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D48D (p.Asp48Asp) variant details
- p.Asp48Asp
- gnomAD 3-122254333-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 11.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available