G33A (p.Gly33Ala) variant of SMARCA4 (P51532)
G33A (p.Gly33Ala) in SMARCA4 (P51532) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G33A (p.Gly33Ala) variant details
- p.Gly33Ala
- gnomAD 19-10984249-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.47
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available