S20G (p.Ser20Gly) variant of ANK2 (Ankyrin-2)
S20G (p.Ser20Gly) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S20G (p.Ser20Gly) variant details
- p.Ser20Gly
- gnomAD 4-113049786-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.04
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.1
- Literature evidence available