L37S (p.Leu37Ser) variant of CASR (P41180)
L37S (p.Leu37Ser) in CASR (P41180) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L37S (p.Leu37Ser) variant details
- p.Leu37Ser
- rs886041823
- gnomAD 3-122254291-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 29.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available