S136A (p.Ser136Ala) variant of SMARCE1 (Q969G3)
S136A (p.Ser136Ala) 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 0.64 / 1. The record also includes population frequency data and structural context.
S136A (p.Ser136Ala) variant details
- p.Ser136Ala
- Ensembl rs538476076
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.67
- CADD 24.00
- PolyPhen-2 0.32
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available