E71A (p.Glu71Ala) variant of LYST (Lysosomal-trafficking regulator)
E71A (p.Glu71Ala) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E71A (p.Glu71Ala) variant details
- p.Glu71Ala
- ExAC rs747426872
- gnomAD rs747426872
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.56
- CADD 32.00
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available