G126R (p.Gly126Arg) variant of LYST (Lysosomal-trafficking regulator)
G126R (p.Gly126Arg) in LYST (Lysosomal-trafficking regulator) 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 and structural context.
G126R (p.Gly126Arg) variant details
- p.Gly126Arg
- TOPMed rs1208650740
- gnomAD rs1208650740
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.08
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available