A22T (p.Ala22Thr) variant of RB1 (P06400)
A22T (p.Ala22Thr) in RB1 (P06400) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- Ensembl rs2138027513
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.09
- MetaLR 0.13
- MetaSVM -1.05
- CADD 10.10
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- UniProt: Likely benign
- Population evidence available
- Structural context available