I28V (p.Ile28Val) variant of SMARCB1 (Q12824)
I28V (p.Ile28Val) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SMARCB1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- rs2517652837
- ClinGen CA410930978
- ClinVar RCV003720892
- ClinVar RCV004550663
- Uncertain significance
- SMARCB1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (SMARCB1-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.986