S99L (p.Ser99Leu) variant of SPTBN2 (O15020)
S99L (p.Ser99Leu) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data.
S99L (p.Ser99Leu) variant details
- p.Ser99Leu
- cosmic curated COSV10002
- TOPMed rs1171949662
- gnomAD rs1171949662
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.95
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)