M57L (p.Met57Leu) variant of VPS35 (Q96QK1)
M57L (p.Met57Leu) in VPS35 (Q96QK1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
M57L (p.Met57Leu) variant details
- p.Met57Leu
- ESP rs375285388
- ExAC rs375285388
- TOPMed rs375285388
- gnomAD rs375285388
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.39
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.53
- EBI: Variant of uncertain significance (in dbSNP:rs183554824)
- UniProt: Uncertain significance (in dbSNP:rs183554824)
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available