D50D (p.Asp50Asp) variant of CASR (P41180)
D50D (p.Asp50Asp) in CASR (P41180) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
D50D (p.Asp50Asp) variant details
- p.Asp50Asp
- rs769021483
- gnomAD 3-122254339-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 10.80
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available