L12S (p.Leu12Ser) variant of CALCA (P06881)
L12S (p.Leu12Ser) in CALCA (P06881) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
L12S (p.Leu12Ser) variant details
- p.Leu12Ser
- gnomAD 11-14971158-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available