N19D (p.Asn19Asp) variant of SPTBN4 (Q9H254)
N19D (p.Asn19Asp) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
N19D (p.Asn19Asp) variant details
- p.Asn19Asp
- gnomAD 19-40472676-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- MetaLR 0.40
- MetaSVM -0.15
- CADD 23.50
- PolyPhen-2 0.93
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available