R51L (p.Arg51Leu) variant of SPTBN4 (Q9H254)
R51L (p.Arg51Leu) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R51L (p.Arg51Leu) variant details
- p.Arg51Leu
- gnomAD 19-40472773-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- MetaLR 0.43
- MetaSVM -0.15
- CADD 29.60
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available