G13R (p.Gly13Arg) variant of ANK2 (Ankyrin-2)
G13R (p.Gly13Arg) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- ExAC rs745356870
- TOPMed rs745356870
- gnomAD rs745356870
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.28
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.228