P25S (p.Pro25Ser) variant of RB1 (P06400)
P25S (p.Pro25Ser) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- rs1566174119
- ClinGen CA388250271
- ClinVar RCV001946175
- Ensembl rs1566174119
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.23
- MetaLR 0.42
- MetaSVM -0.73
- CADD 6.09
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)