A47V (p.Ala47Val) variant of CALCA (P06881)
A47V (p.Ala47Val) 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 0.07 / 1. The record also includes population frequency data.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- cosmic curated COSV59028
- TOPMed rs1484959474
- gnomAD rs1484959474
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0691
- REVEL 0.05
- CADD 5.18
- PolyPhen-2 0.02
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)