K31R (p.Lys31Arg) variant of ATL1 (Atlastin-1)
K31R (p.Lys31Arg) in ATL1 (Atlastin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K31R (p.Lys31Arg) variant details
- p.Lys31Arg
- gnomAD 14-50587883-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 27.00
- Population evidence available
- Structural context available
- Literature evidence available