A47T (p.Ala47Thr) variant of CALCA (P06881)
A47T (p.Ala47Thr) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- ExAC rs782126509
- Missense
- Variant Prioritization Score for Impact Estimate 0.0509
- REVEL 0.03
- CADD 2.88
- PolyPhen-2 0.29
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)