P24S (p.Pro24Ser) variant of RB1 (P06400)
P24S (p.Pro24Ser) in RB1 (P06400) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P24S (p.Pro24Ser) variant details
- p.Pro24Ser
- TOPMed rs1952053688
- gnomAD rs1952053688
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.26
- MetaLR 0.65
- MetaSVM -0.27
- CADD 17.30
- PolyPhen-2 0.97
- SIFT 1.00
- ClinVar: Uncertain significance (Retinoblastoma)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available