S43G (p.Ser43Gly) variant of CALCA (P06881)
S43G (p.Ser43Gly) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and published literature.
S43G (p.Ser43Gly) variant details
- p.Ser43Gly
- gnomAD 11-14970035-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.03
- CADD 7.29
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available