T51I (p.Thr51Ile) variant of ATL1 (Atlastin-1)
T51I (p.Thr51Ile) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T51I (p.Thr51Ile) variant details
- p.Thr51Ile
- gnomAD 14-50587948-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.17
- CADD 19.30
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available