L75V (p.Leu75Val) variant of LYST (Lysosomal-trafficking regulator)
L75V (p.Leu75Val) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L75V (p.Leu75Val) variant details
- p.Leu75Val
- Ensembl rs2102906107
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.41
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available