A15T (p.Ala15Thr) variant of RB1 (P06400)
A15T (p.Ala15Thr) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- cosmic curated COSV57297
- Ensembl rs587778638
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.17
- AlphaMissense 0.14
- MetaLR 0.52
- MetaSVM -0.62
- CADD 8.23
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available