G13D (p.Gly13Asp) variant of SPTBN4 (Q9H254)
G13D (p.Gly13Asp) 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 0.76 / 1. The record also includes population frequency data and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- NCI-TCGA Cosmic COSV5895
- cosmic curated COSV58956
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.48
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available