E24D (p.Glu24Asp) variant of SMARCB1 (Q12824)
E24D (p.Glu24Asp) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- cosmic curated COSV53157
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.793