Q49Q (p.Gln49Gln) variant of CASR (P41180)
Q49Q (p.Gln49Gln) in CASR (P41180) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q49Q (p.Gln49Gln) variant details
- p.Gln49Gln
- rs2074530803
- gnomAD 3-122254336-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 10.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available