L1568V (p.Leu1568Val) variant of SYNJ1 (O43426)
L1568V (p.Leu1568Val) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L1568V (p.Leu1568Val) variant details
- p.Leu1568Val
- gnomAD 21-32631015-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 14.20
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available