G38D (p.Gly38Asp) variant of SMARCA2 (P51531)
G38D (p.Gly38Asp) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G38D (p.Gly38Asp) variant details
- p.Gly38Asp
- rs774085434
- ClinGen CA372779177
- ClinVar RCV003562298
- ExAC rs774085434
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.48
- AlphaMissense 0.83
- MetaLR 0.69
- MetaSVM 0.45
- CADD 24.80
- PolyPhen-2 0.85
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available