A12A (p.Ala12Ala) variant of CASR (P41180)
A12A (p.Ala12Ala) in CASR (P41180) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- rs1262049687
- gnomAD 3-122254225-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0828
- CADD 0.33
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available