K15K (p.Lys15Lys) variant of ANK2 (Ankyrin-2)
K15K (p.Lys15Lys) in ANK2 (Ankyrin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K15K (p.Lys15Lys) variant details
- p.Lys15Lys
- rs1177165569
- gnomAD 4-113145910-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 19.80
- Most common in the REMAINING population (allele frequency 2.4e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.433
- Literature evidence available