G13R (p.Gly13Arg) variant of ATL1 (Atlastin-1)
G13R (p.Gly13Arg) in ATL1 (Atlastin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs1566722874
- Ensembl rs1566722874
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.18
- CADD 24.00
- PolyPhen-2 0.35
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available