S52G (p.Ser52Gly) variant of SMARCA2 (P51531)
S52G (p.Ser52Gly) 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 0.43 / 1. The record also includes population frequency data and structural context.
S52G (p.Ser52Gly) variant details
- p.Ser52Gly
- rs763439455
- ClinGen CA4962763
- ClinVar RCV002290908
- ExAC rs763439455
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.34
- AlphaMissense 0.08
- MetaLR 0.56
- MetaSVM -0.03
- CADD 21.90
- PolyPhen-2 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available