N20K (p.Asn20Lys) variant of SPTBN4 (Q9H254)
N20K (p.Asn20Lys) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
N20K (p.Asn20Lys) variant details
- p.Asn20Lys
- gnomAD rs1478794270
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 22.00
- PolyPhen-2 0.95
- SIFT 0.04
- Most common in the South Asian population (allele frequency 3.5e-05)