S40F (p.Ser40Phe) variant of SPTBN4 (Q9H254)
S40F (p.Ser40Phe) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S40F (p.Ser40Phe) variant details
- p.Ser40Phe
- gnomAD rs1220738293
- cosmic curated COSV10522
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 19.40
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available