N20del (p.Asn20del) variant of SPTBN4 (Q9H254)
N20del (p.Asn20del) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and published literature.
N20del (p.Asn20del) variant details
- gnomAD 19-40472672-TAAC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 16.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available