R5H (p.Arg5His) variant of ATL1 (Atlastin-1)
R5H (p.Arg5His) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- gnomAD 14-50560279-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.20
- CADD 24.70
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available