p.Leu12 Ser13insGluGlyGlyAlaGly variant of CALCA (P06881)
p.Leu12 Ser13insGluGlyGlyAlaGly in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
p.Leu12 Ser13insGluGlyGlyAlaGly variant details
- gnomAD 11-14971157-G-GCC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 18.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available