P15S (p.Pro15Ser) variant of SPTBN4 (Q9H254)
P15S (p.Pro15Ser) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- gnomAD 19-40472664-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- MetaLR 0.28
- MetaSVM -0.81
- CADD 8.79
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available