A18P (p.Ala18Pro) variant of RB1 (P06400)
A18P (p.Ala18Pro) in RB1 (P06400) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
A18P (p.Ala18Pro) variant details
- p.Ala18Pro
- 1000Genomes rs528218090
- ExAC rs528218090
- TOPMed rs528218090
- gnomAD rs528218090
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available