C49S (p.Cys49Ser) variant of SPTBN4 (Q9H254)
C49S (p.Cys49Ser) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
C49S (p.Cys49Ser) variant details
- p.Cys49Ser
- gnomAD 19-40472767-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- MetaLR 0.42
- MetaSVM -0.13
- CADD 23.80
- PolyPhen-2 0.92
- SIFT 0.07
- Population evidence available
- Literature evidence available