G62D (p.Gly62Asp) variant of CALCRL (Q16602)
G62D (p.Gly62Asp) in CALCRL (Q16602) 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 0.41 / 1. The record also includes population frequency data and structural context.
G62D (p.Gly62Asp) variant details
- p.Gly62Asp
- rs751001936
- ExAC rs751001936
- TOPMed rs751001936
- gnomAD rs751001936
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.14
- MetaLR 0.42
- MetaSVM -0.04
- SIFT 0.01
- MutPred 0.77
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available