M57V (p.Met57Val) variant of VPS35 (Q96QK1)
M57V (p.Met57Val) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar, EBI, 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 0.37 / 1. The record also includes population frequency data and structural context.
M57V (p.Met57Val) variant details
- p.Met57Val
- ESP rs375285388
- ExAC rs375285388
- TOPMed rs375285388
- gnomAD rs375285388
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.23
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in dbSNP:rs183554824)
- UniProt: Uncertain significance (in dbSNP:rs183554824)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available