R34L (p.Arg34Leu) variant of SPTBN4 (Q9H254)
R34L (p.Arg34Leu) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- ExAC rs775690872
- gnomAD rs775690872
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)