C29R (p.Cys29Arg) variant of ERBB3 (P21860)
C29R (p.Cys29Arg) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C29R (p.Cys29Arg) variant details
- p.Cys29Arg
- ExAC rs757712749
- gnomAD rs757712749
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.87
- MetaLR 0.69
- MetaSVM 0.47
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available