G6R (p.Gly6Arg) variant of SPTBN4 (Q9H254)
G6R (p.Gly6Arg) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- gnomAD 19-40472637-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- MetaLR 0.42
- MetaSVM -0.08
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available