D5D (p.Asp5Asp) variant of SMARCA4 (P51532)
D5D (p.Asp5Asp) in SMARCA4 (P51532) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D5D (p.Asp5Asp) variant details
- p.Asp5Asp
- rs1309825975
- gnomAD 19-10984166-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 11.30
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available