P2S (p.Pro2Ser) variant of RB1 (P06400)
P2S (p.Pro2Ser) in RB1 (P06400) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- cosmic curated COSV57321
- gnomAD rs1328198608
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.64
- MetaLR 0.79
- MetaSVM 0.72
- CADD 25.60
- PolyPhen-2 0.97
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available