R30L (p.Arg30Leu) variant of SPTBN4 (Q9H254)
R30L (p.Arg30Leu) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R30L (p.Arg30Leu) variant details
- p.Arg30Leu
- gnomAD 19-40472710-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- MetaLR 0.39
- MetaSVM -0.51
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available