D49Y (p.Asp49Tyr) variant of ATL1 (Atlastin-1)
D49Y (p.Asp49Tyr) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
D49Y (p.Asp49Tyr) variant details
- p.Asp49Tyr
- gnomAD 14-50587941-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.74
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available