V139G (p.Val139Gly) variant of LYST (Lysosomal-trafficking regulator)
V139G (p.Val139Gly) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V139G (p.Val139Gly) variant details
- p.Val139Gly
- ExAC rs781096801
- TOPMed rs781096801
- gnomAD rs781096801
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.03
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available