Q3R (p.Gln3Arg) variant of SPTBN4 (Q9H254)
Q3R (p.Gln3Arg) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q3R (p.Gln3Arg) variant details
- p.Gln3Arg
- gnomAD 19-40472629-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- MetaLR 0.23
- MetaSVM -0.68
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available