S20R (p.Ser20Arg) variant of ANK2 (Ankyrin-2)
S20R (p.Ser20Arg) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- gnomAD 4-113049788-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.09
- CADD 22.80
- PolyPhen-2 0.49
- SIFT 0.04
- 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