L46I (p.Leu46Ile) variant of SPTBN4 (Q9H254)
L46I (p.Leu46Ile) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L46I (p.Leu46Ile) variant details
- p.Leu46Ile
- Ensembl rs2079900782
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.02
- Population evidence available
- Structural context available