V29R (p.Val29Arg) variant of ATL1 (Atlastin-1)
V29R (p.Val29Arg) in ATL1 (Atlastin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V29R (p.Val29Arg) variant details
- p.Val29Arg
- gnomAD 14-50587880-A-AAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 27.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available