A22T (p.Ala22Thr) variant of VPS35 (Q96QK1)
A22T (p.Ala22Thr) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- ExAC rs769187894
- TOPMed rs769187894
- gnomAD rs769187894
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.14
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available