P48S (p.Pro48Ser) variant of SMARCA2 (P51531)
P48S (p.Pro48Ser) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- gnomAD rs1252482007
- Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.46
- AlphaMissense 0.39
- MetaLR 0.81
- MetaSVM 0.60
- CADD 24.00
- PolyPhen-2 1.00
- ClinVar: Likely benign (not provided; Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available