R47L (p.Arg47Leu) variant of SPTBN2 (O15020)
R47L (p.Arg47Leu) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
R47L (p.Arg47Leu) variant details
- p.Arg47Leu
- ExAC rs768391963
- gnomAD rs768391963
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.56
- CADD 26.40
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)