p.Asp43 His44del variant of ATL1 (Atlastin-1)
p.Asp43 His44del in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
p.Asp43 His44del variant details
- rs771475691
- gnomAD 14-50587920-GATGA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 19.10
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available