P48R (p.Pro48Arg) variant of SMARCA2 (P51531)
P48R (p.Pro48Arg) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
P48R (p.Pro48Arg) variant details
- p.Pro48Arg
- rs1818956557
- ClinGen CA372779245
- ClinVar RCV002509972
- TOPMed rs1818956557
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.80
- MetaLR 0.81
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available