L55W (p.Leu55Trp) variant of SPTBN4 (Q9H254)
L55W (p.Leu55Trp) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L55W (p.Leu55Trp) variant details
- p.Leu55Trp
- gnomAD 19-40472785-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- MetaLR 0.51
- MetaSVM 0.17
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available