P46S (p.Pro46Ser) variant of SMARCA2 (P51531)
P46S (p.Pro46Ser) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P46S (p.Pro46Ser) variant details
- p.Pro46Ser
- cosmic curated COSV61804
- Ensembl rs1563716507
- Uncertain significance
- Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.53
- AlphaMissense 0.70
- MetaLR 0.78
- MetaSVM 0.63
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Intellectual disability)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available