A22E (p.Ala22Glu) variant of RB1 (P06400)
A22E (p.Ala22Glu) in RB1 (P06400) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A22E (p.Ala22Glu) variant details
- p.Ala22Glu
- Ensembl rs2138027521
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.06
- MetaLR 0.12
- MetaSVM -1.03
- CADD 11.00
- PolyPhen-2 0.01
- SIFT 0.53
- ClinVar: Uncertain significance (Retinoblastoma)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available