D45Y (p.Asp45Tyr) variant of CALCA (P06881)
D45Y (p.Asp45Tyr) in CALCA (P06881) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
D45Y (p.Asp45Tyr) variant details
- p.Asp45Tyr
- rs1304418762
- NCI-TCGA Cosmic COSV1005
- TOPMed rs1304418762
- gnomAD rs1304418762
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.04
- CADD 13.00
- PolyPhen-2 0.07
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)