S13R (p.Ser13Arg) variant of CALCA (P06881)
S13R (p.Ser13Arg) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
S13R (p.Ser13Arg) variant details
- p.Ser13Arg
- gnomAD 11-14971154-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.34
- CADD 23.60
- PolyPhen-2 0.88
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available