G45A (p.Gly45Ala) variant of SMARCA2 (P51531)
G45A (p.Gly45Ala) 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 0.66 / 1. The record also includes population frequency data and structural context.
G45A (p.Gly45Ala) variant details
- p.Gly45Ala
- rs1219506276
- ClinGen CA372779226
- ClinVar RCV003568777
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.55
- AlphaMissense 0.78
- MetaLR 0.84
- MetaSVM 0.81
- CADD 27.70
- PolyPhen-2 1.00
- 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