S20F (p.Ser20Phe) variant of ERBB3 (P21860)
S20F (p.Ser20Phe) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- cosmic curated COSV57262
- ExAC rs34379766
- TOPMed rs34379766
- gnomAD rs34379766
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.24
- MetaLR 0.36
- MetaSVM -0.23
- CADD 23.00
- PolyPhen-2 0.25
- SIFT 0.70
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available