K3Q (p.Lys3Gln) variant of ATL1 (Atlastin-1)
K3Q (p.Lys3Gln) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K3Q (p.Lys3Gln) variant details
- p.Lys3Gln
- gnomAD 14-50560272-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.11
- CADD 22.30
- PolyPhen-2 0.06
- SIFT 0.22
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available