L183F (p.Leu183Phe) variant of SPTBN2 (O15020)
L183F (p.Leu183Phe) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
L183F (p.Leu183Phe) variant details
- p.Leu183Phe
- TOPMed rs1942037567
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.84
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)