P58R (p.Pro58Arg) variant of SMARCA2 (P51531)
P58R (p.Pro58Arg) in SMARCA2 (P51531) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P58R (p.Pro58Arg) variant details
- p.Pro58Arg
- ExAC rs764338204
- TOPMed rs764338204
- gnomAD rs764338204
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.36
- AlphaMissense 0.37
- MetaLR 0.53
- MetaSVM -0.04
- CADD 23.00
- PolyPhen-2 0.33
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available