L36L (p.Leu36Leu) variant of ANK2 (Ankyrin-2)
L36L (p.Leu36Leu) in ANK2 (Ankyrin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L36L (p.Leu36Leu) variant details
- p.Leu36Leu
- gnomAD 4-112904506-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.224
- CADD 7.87
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.221
- Literature evidence available