S69L (p.Ser69Leu) variant of SPTBN2 (O15020)
S69L (p.Ser69Leu) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data.
S69L (p.Ser69Leu) variant details
- p.Ser69Leu
- cosmic curated COSV10518
- ExAC rs773270398
- gnomAD rs773270398
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.89
- CADD 28.00
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)