N17D (p.Asn17Asp) variant of LYST (Lysosomal-trafficking regulator)
N17D (p.Asn17Asp) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N17D (p.Asn17Asp) variant details
- p.Asn17Asp
- ExAC rs747677876
- gnomAD rs747677876
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.18
- CADD 22.80
- PolyPhen-2 0.37
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available