R6K (p.Arg6Lys) variant of ATL1 (Atlastin-1)
R6K (p.Arg6Lys) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R6K (p.Arg6Lys) variant details
- p.Arg6Lys
- gnomAD rs1488692032
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.05
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available