L46F (p.Leu46Phe) variant of SPTBN4 (Q9H254)
L46F (p.Leu46Phe) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L46F (p.Leu46Phe) variant details
- p.Leu46Phe
- gnomAD 19-40472757-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- MetaLR 0.60
- MetaSVM 0.12
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available