A18T (p.Ala18Thr) variant of RB1 (P06400)
A18T (p.Ala18Thr) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- rs528218090
- ClinGen CA388250228
- cosmic curated COSV57307
- ClinVar RCV000802787
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.13
- MetaLR 0.54
- MetaSVM -0.49
- CADD 15.60
- PolyPhen-2 0.03
- SIFT 0.61
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Retinoblastoma. (PMID 20301625)