D5N (p.Asp5Asn) variant of ANK2 (Ankyrin-2)
D5N (p.Asp5Asn) in ANK2 (Ankyrin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- ExAC rs748654930
- gnomAD rs748654930
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.11
- CADD 26.00
- PolyPhen-2 0.43
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.143