P23Q (p.Pro23Gln) variant of RB1 (P06400)
P23Q (p.Pro23Gln) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P23Q (p.Pro23Gln) variant details
- p.Pro23Gln
- rs1952053594
- ClinGen CA388250262
- ClinVar RCV001048894
- Ensembl rs1952053594
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.23
- AlphaMissense 0.11
- MetaLR 0.42
- MetaSVM -0.60
- CADD 18.70
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)