L27I (p.Leu27Ile) variant of SMARCA2 (P51531)
L27I (p.Leu27Ile) 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 0.48 / 1. The record also includes population frequency data and structural context.
L27I (p.Leu27Ile) variant details
- p.Leu27Ile
- NCI-TCGA Cosmic COSV6180
- cosmic curated COSV61804
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.34
- AlphaMissense 0.27
- MetaLR 0.59
- MetaSVM 0.01
- CADD 22.00
- PolyPhen-2 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available