Y50H (p.Tyr50His) variant of ERBB3 (P21860)
Y50H (p.Tyr50His) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Y50H (p.Tyr50His) variant details
- p.Tyr50His
- gnomAD 12-56083816-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.13
- MetaLR 0.24
- MetaSVM -0.96
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available