S13F (p.Ser13Phe) variant of SH2B3 (SH2B adapter protein 3)
S13F (p.Ser13Phe) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S13F (p.Ser13Phe) variant details
- p.Ser13Phe
- gnomAD rs774260657
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -0.96
- CADD 16.00
- PolyPhen-2 0.20
- SIFT 0.14
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- Structural context available