S10N (p.Ser10Asn) variant of ANK2 (Ankyrin-2)
S10N (p.Ser10Asn) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S10N (p.Ser10Asn) variant details
- p.Ser10Asn
- gnomAD 4-113049757-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.09
- CADD 25.50
- PolyPhen-2 0.73
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.464
- Literature evidence available