S134F (p.Ser134Phe) variant of LYST (Lysosomal-trafficking regulator)
S134F (p.Ser134Phe) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S134F (p.Ser134Phe) variant details
- p.Ser134Phe
- ExAC rs770004763
- gnomAD rs770004763
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.06
- CADD 26.00
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available