A29V (p.Ala29Val) variant of LYST (Lysosomal-trafficking regulator)
A29V (p.Ala29Val) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- gnomAD rs1310444782
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.19
- CADD 23.60
- PolyPhen-2 0.42
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available