V1366A (p.Val1366Ala) variant of SYNJ1 (O43426)
V1366A (p.Val1366Ala) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature.
V1366A (p.Val1366Ala) variant details
- p.Val1366Ala
- rs9980589
- cosmic curated COSV59148
- UniProt VAR 047309
- ExAC rs9980589
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.11
- MetaLR 0.44
- MetaSVM -0.64
- SIFT 0.01
- Literature evidence available