S127R (p.Ser127Arg) variant of LYST (Lysosomal-trafficking regulator)
S127R (p.Ser127Arg) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S127R (p.Ser127Arg) variant details
- p.Ser127Arg
- TOPMed rs1046482208
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.04
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available