R1573K (p.Arg1573Lys) variant of SYNJ1 (O43426)
R1573K (p.Arg1573Lys) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R1573K (p.Arg1573Lys) variant details
- p.Arg1573Lys
- rs772562248
- gnomAD 21-32630999-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 24.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available