L122S (p.Leu122Ser) variant of LYST (Lysosomal-trafficking regulator)
L122S (p.Leu122Ser) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L122S (p.Leu122Ser) variant details
- p.Leu122Ser
- ExAC rs759993717
- TOPMed rs759993717
- gnomAD rs759993717
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.08
- CADD 17.40
- PolyPhen-2 0.08
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available