A41T (p.Ala41Thr) variant of ANK2 (Ankyrin-2)
A41T (p.Ala41Thr) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ANK2-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A41T (p.Ala41Thr) variant details
- p.Ala41Thr
- rs1085307623
- ClinGen CA357992917
- ClinVar RCV000490229
- ClinVar RCV003409672
- Uncertain significance
- ANK2-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.27
- CADD 27.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (ANK2-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.213