S27N (p.Ser27Asn) variant of SPTBN4 (Q9H254)
S27N (p.Ser27Asn) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
S27N (p.Ser27Asn) variant details
- p.Ser27Asn
- gnomAD 19-40472701-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- MetaLR 0.38
- MetaSVM -0.48
- CADD 23.50
- PolyPhen-2 0.88
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available