S16L (p.Ser16Leu) variant of SMARCA2 (P51531)
S16L (p.Ser16Leu) 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 0.67 / 1. The record also includes population frequency data and structural context.
S16L (p.Ser16Leu) variant details
- p.Ser16Leu
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10057
- Ensembl rs2130178649
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.65
- AlphaMissense 0.79
- MetaLR 0.80
- MetaSVM 0.72
- CADD 27.30
- PolyPhen-2 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available