V47A (p.Val47Ala) variant of LYST (Lysosomal-trafficking regulator)
V47A (p.Val47Ala) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V47A (p.Val47Ala) variant details
- p.Val47Ala
- gnomAD rs1409282900
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.33
- CADD 26.10
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available