Y39H (p.Tyr39His) variant of SMARCE1 (Q969G3)
Y39H (p.Tyr39His) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y39H (p.Tyr39His) variant details
- p.Tyr39His
- gnomAD rs1418428626
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.24
- CADD 25.00
- PolyPhen-2 0.80
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.232