E20A (p.Glu20Ala) variant of SMARCB1 (Q12824)
E20A (p.Glu20Ala) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E20A (p.Glu20Ala) variant details
- p.Glu20Ala
- rs2145952083
- ClinGen CA410930788
- ClinVar RCV002003514
- Ensembl rs2145952083
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 25.20
- PolyPhen-2 0.42
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.169