R5S (p.Arg5Ser) variant of ATL1 (Atlastin-1)
R5S (p.Arg5Ser) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- gnomAD 14-50560278-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.23
- CADD 24.40
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available