S138F (p.Ser138Phe) variant of SPTBN2 (O15020)
S138F (p.Ser138Phe) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
S138F (p.Ser138Phe) variant details
- p.Ser138Phe
- cosmic curated COSV59445
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.68
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)