D5E (p.Asp5Glu) variant of SMARCA4 (P51532)
D5E (p.Asp5Glu) in SMARCA4 (P51532) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D5E (p.Asp5Glu) variant details
- p.Asp5Glu
- gnomAD rs1309825975
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.42
- CADD 24.10
- PolyPhen-2 0.94
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available