R30S (p.Arg30Ser) variant of LYST (Lysosomal-trafficking regulator)
R30S (p.Arg30Ser) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- ExAC rs751871167
- gnomAD rs751871167
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.13
- CADD 23.10
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available