A2A (p.Ala2Ala) variant of CASR (P41180)
A2A (p.Ala2Ala) in CASR (P41180) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs112042188
- gnomAD 3-122254195-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.106
- CADD 3.65
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available
- Literature evidence available