P50S (p.Pro50Ser) variant of SMARCA2 (P51531)
P50S (p.Pro50Ser) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- TOPMed rs1181552796
- gnomAD rs1181552796
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.52
- AlphaMissense 0.27
- MetaLR 0.84
- MetaSVM 0.79
- CADD 25.70
- PolyPhen-2 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available