P35S (p.Pro35Ser) variant of SMARCA2 (P51531)
P35S (p.Pro35Ser) in SMARCA2 (P51531) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- rs562820489
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10057
- 1000Genomes rs562820489
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.40
- AlphaMissense 0.21
- MetaLR 0.55
- MetaSVM -0.08
- CADD 22.70
- PolyPhen-2 0.45
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available