G13E (p.Gly13Glu) variant of ANK2 (Ankyrin-2)
G13E (p.Gly13Glu) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- cosmic curated COSV10438
- ExAC rs771799732
- gnomAD rs771799732
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.26
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.228