D9N (p.Asp9Asn) variant of SPTBN4 (Q9H254)
D9N (p.Asp9Asn) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
D9N (p.Asp9Asn) variant details
- p.Asp9Asn
- gnomAD rs1234034911
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available