K30K (p.Lys30Lys) variant of ATL1 (Atlastin-1)
K30K (p.Lys30Lys) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K30K (p.Lys30Lys) variant details
- p.Lys30Lys
- rs200452381
- gnomAD 14-50587886-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 9.74
- Population evidence available
- Structural context available
- Literature evidence available