D9G (p.Asp9Gly) variant of SPTBN4 (Q9H254)
D9G (p.Asp9Gly) in SPTBN4 (Q9H254) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
D9G (p.Asp9Gly) variant details
- p.Asp9Gly
- rs774383165
- ExAC rs774383165
- gnomAD rs774383165
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 28.10
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available