L37A (p.Leu37Ala) variant of CASR (P41180)
L37A (p.Leu37Ala) in CASR (P41180) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L37A (p.Leu37Ala) variant details
- p.Leu37Ala
- rs886041823
- gnomAD 3-122254291-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available