D7G (p.Asp7Gly) variant of ATL1 (Atlastin-1)
D7G (p.Asp7Gly) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D7G (p.Asp7Gly) variant details
- p.Asp7Gly
- cosmic curated COSV63296
- ExAC rs759476841
- gnomAD rs759476841
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.28
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.04
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available