G18D (p.Gly18Asp) variant of ANK2 (Ankyrin-2)
G18D (p.Gly18Asp) in ANK2 (Ankyrin-2) 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 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- rs746628566
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10000
- ExAC rs746628566
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.24
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.828