P15R (p.Pro15Arg) variant of SPTBN4 (Q9H254)
P15R (p.Pro15Arg) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- gnomAD 19-40472665-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- MetaLR 0.26
- MetaSVM -0.64
- CADD 9.12
- PolyPhen-2 0.05
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available