T12A (p.Thr12Ala) variant of RB1 (P06400)
T12A (p.Thr12Ala) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T12A (p.Thr12Ala) variant details
- p.Thr12Ala
- rs1566174063
- ClinGen CA388250195
- ClinVar RCV000822727
- ClinVar RCV005260447
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.17
- MetaLR 0.38
- MetaSVM -0.60
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)