S20S (p.Ser20Ser) variant of ANK2 (Ankyrin-2)
S20S (p.Ser20Ser) in ANK2 (Ankyrin-2) is a synonymous 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.
S20S (p.Ser20Ser) variant details
- p.Ser20Ser
- gnomAD 4-113049788-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.1
- Literature evidence available