D29G (p.Asp29Gly) variant of SPTBN4 (Q9H254)
D29G (p.Asp29Gly) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D29G (p.Asp29Gly) variant details
- p.Asp29Gly
- Ensembl rs2079899486
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 23.40
- PolyPhen-2 0.32
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available