M87L (p.Met87Leu) variant of ATL1 (Atlastin-1)
M87L (p.Met87Leu) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
M87L (p.Met87Leu) variant details
- p.Met87Leu
- gnomAD 14-50588055-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.17
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available