A6T (p.Ala6Thr) variant of ERBB3 (P21860)
A6T (p.Ala6Thr) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- ExAC rs757100419
- TOPMed rs757100419
- gnomAD rs757100419
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.04
- MetaLR 0.18
- MetaSVM -0.92
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available