V1554L (p.Val1554Leu) variant of SYNJ1 (O43426)
V1554L (p.Val1554Leu) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and published literature.
V1554L (p.Val1554Leu) variant details
- p.Val1554Leu
- gnomAD 21-32631057-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 14.80
- SIFT 0.03
- Population evidence available
- Literature evidence available