D5Y (p.Asp5Tyr) variant of ANK2 (Ankyrin-2)
D5Y (p.Asp5Tyr) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D5Y (p.Asp5Tyr) variant details
- p.Asp5Tyr
- rs748654930
- ClinGen CA357992657
- ClinVar RCV000498439
- ExAC rs748654930
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.23
- CADD 31.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.143