L55F (p.Leu55Phe) variant of SPTBN4 (Q9H254)
L55F (p.Leu55Phe) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L55F (p.Leu55Phe) variant details
- p.Leu55Phe
- gnomAD 19-40472786-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- MetaLR 0.43
- MetaSVM -0.18
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available