A69T (p.Ala69Thr) variant of ATL1 (Atlastin-1)
A69T (p.Ala69Thr) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- gnomAD 14-50588001-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.34
- CADD 24.80
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available