A31S (p.Ala31Ser) variant of CALCA (P06881)
A31S (p.Ala31Ser) in CALCA (P06881) is a missense change. Clinical records from ClinVar 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 0.05 / 1. The record also includes population frequency data.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- 1000Genomes rs538582019
- ExAC rs538582019
- TOPMed rs538582019
- gnomAD rs538582019
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0547
- REVEL 0.04
- CADD 1.97
- PolyPhen-2 0.03
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)