A11T (p.Ala11Thr) variant of CALCA (P06881)
A11T (p.Ala11Thr) in CALCA (P06881) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs1555026441
- ClinGen CA379868633
- ClinVar RCV004086272
- gnomAD rs1555026441
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.08
- CADD 23.30
- PolyPhen-2 0.62
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)