R69K (p.Arg69Lys) variant of LYST (Lysosomal-trafficking regulator)
R69K (p.Arg69Lys) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R69K (p.Arg69Lys) variant details
- p.Arg69Lys
- ESP rs371476919
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.21
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available