M2L (p.Met2Leu) variant of ANK2 (Ankyrin-2)
M2L (p.Met2Leu) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M2L (p.Met2Leu) variant details
- p.Met2Leu
- gnomAD 4-113049732-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.21
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- ANK2 Death domain domainome 1.0: score 0.0557
- Literature evidence available