S43L (p.Ser43Leu) variant of ZRSR2 (Q15696)
S43L (p.Ser43Leu) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S43L (p.Ser43Leu) variant details
- p.Ser43Leu
- gnomAD X-15801327-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 0.59
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available