P15L (p.Pro15Leu) variant of SPTBN4 (Q9H254)
P15L (p.Pro15Leu) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- 1000Genomes rs540058459
- ExAC rs540058459
- gnomAD rs540058459
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available