L14Q (p.Leu14Gln) variant of SPTBN4 (Q9H254)
L14Q (p.Leu14Gln) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- gnomAD 19-40472662-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- MetaLR 0.09
- MetaSVM -0.86
- CADD 10.60
- PolyPhen-2 0.05
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available