R51Q (p.Arg51Gln) variant of SPTBN4 (Q9H254)
R51Q (p.Arg51Gln) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- gnomAD rs1474599629
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- CADD 29.90
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available