L51V (p.Leu51Val) variant of SPTBN2 (O15020)
L51V (p.Leu51Val) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- gnomAD rs1439956051
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.27
- CADD 23.40
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)