A73T (p.Ala73Thr) variant of ATL1 (Atlastin-1)
A73T (p.Ala73Thr) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A73T (p.Ala73Thr) variant details
- p.Ala73Thr
- gnomAD rs1416275162
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.59
- CADD 27.90
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available