G18S (p.Gly18Ser) variant of ANK2 (Ankyrin-2)
G18S (p.Gly18Ser) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- gnomAD 4-113049780-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.11
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.828
- Literature evidence available