N10D (p.Asn10Asp) variant of SPTBN4 (Q9H254)
N10D (p.Asn10Asp) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
N10D (p.Asn10Asp) variant details
- p.Asn10Asp
- TOPMed rs1347390202
- gnomAD rs1347390202
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 23.60
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available