S30A (p.Ser30Ala) variant of CALCA (P06881)
S30A (p.Ser30Ala) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and published literature.
S30A (p.Ser30Ala) variant details
- p.Ser30Ala
- gnomAD 11-14970074-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.14
- CADD 9.59
- PolyPhen-2 0.02
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available