G38V (p.Gly38Val) variant of SMARCA2 (P51531)
G38V (p.Gly38Val) in SMARCA2 (P51531) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
G38V (p.Gly38Val) variant details
- p.Gly38Val
- rs774085434
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10057
- ExAC rs774085434
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.51
- AlphaMissense 0.38
- MetaLR 0.73
- MetaSVM 0.54
- CADD 27.70
- PolyPhen-2 0.85
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available