S10E (p.Ser10Glu) variant of ANK2 (Ankyrin-2)
S10E (p.Ser10Glu) in ANK2 (Ankyrin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S10E (p.Ser10Glu) variant details
- p.Ser10Glu
- rs2154367173
- gnomAD 4-113113728-T-TGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 11.40
- Most common in the 1KG:STU population (allele frequency 0.01)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.464
- Literature evidence available