A18S (p.Ala18Ser) variant of RB1 (P06400)
A18S (p.Ala18Ser) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hereditary cancer-predisposing syndrome; Hereditary retinoblastoma; Retinoblasto. 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.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- rs528218090
- ClinGen CA038529
- ClinVar RCV000226647
- ClinVar RCV000568995
- Benign/Likely benign
- Hereditary cancer-predisposing syndrome; Hereditary retinoblastoma; Retinoblasto
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.14
- MetaLR 0.54
- MetaSVM -0.51
- CADD 13.70
- PolyPhen-2 0.09
- SIFT 0.77
- ClinVar: Benign/Likely benign (Hereditary cancer-predisposing syndrome; Hereditary retinoblasto)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00044)
- 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)